Human Mutation

Cover image for Vol. 38 Issue 6

Edited By: Garry R. Cutting

Impact Factor: 5.089

ISI Journal Citation Reports © Ranking: 2015: 23/166 (Genetics & Heredity)

Online ISSN: 1098-1004

Mutations in Brief: 2004


Announcement from the Publisher
Mutations in Brief published in 2008
Mutations in Brief published in 2007
Mutations in Brief published in 2006
Mutations in Brief published in 2005
Mutations in Brief published in 2004
Mutations in Brief published in 2003
Mutations in Brief published in 2002
Mutations in Brief published in 2001
Mutations in Brief accepted in 1995-2000

 Erratum: Four Novel Mutations in Patients From the Middle East With the Infantile Form of GM1-gangliosidosis
T. Georgiou, A. Drousiotou, Y. Campos, A. Caciotti, L. Sztriha, A. Gururaj, P. Ozand, E. Zammarchi, A. Morrone, and A. D’Azzo
Erratum received September 29, 2004.
Link to original article
Online Citation: Human Mutation , Mutation in Brief #767(2004) Online
Print Citation: Volume 24, Issue 6, pages 536-537

 A Novel Mutation in KCNA1 Causes Episodic Ataxia Without Myokymia
Hane Lee, Hui Wang, Joanna C. Jen, Chiara Sabatti, Robert W. Baloh, and Stanley F. Nelson
Received June 25, 2004; accepted September 13, 2004.
Online Citation: Human Mutation , Mutation in Brief #766(2004) Online
Print Citation: Volume 24, Issue 6, page 536

 Haplotypes of the Alpha-1 Antitrypsin Gene in Healthy Controls and Z Deficiency Patients
Sally Chappell, Tamar Guetta-Baranés, Kathryn Batowski, Eftihia Yiannakis, Kevin Morgan, Clare O’Connor, William MacNee, and Noor Kalsheker
Received June 10, 2004; accepted September 13, 2004.
Online Citation: Human Mutation , Mutation in Brief #765(2004) Online
Print Citation: Volume 24, Issue 6, pages 535-536

 A Novel Mutation in UDP- N -acetylglucosamine-1-phosphotransferase Gamma Subunit (GNPTAG) in Two Siblings with Mucolipidosis Type III Alters a Used Glycosylation Site
Stephan Tiede, Michael Cantz, Annick Raas-Rothschild, Nicole Muschol, Friederike Bürger, Kurt Ullrich, and Thomas Braulke
Received June 16, 2004; accepted September 10, 2004.
Online Citation: Human Mutation , Mutation in Brief #764(2004) Online
Print Citation: Volume 24, Issue 6, page 535

 Mutations of the Nogo-66 Receptor ( RTN4R ) Gene in Schizophrenia
Lorenzo Sinibaldi, Alessandro De Luca, Emanuele Bellacchio, Emanuela Conti, Augusto Pasini, Claudio Paloscia, Gianfranco Spalletta, Carlo Caltagirone, Antonio Pizzuti, and Bruno Dallapiccola
Received March 25, 2004; accepted September 1, 2004.
Online Citation: Human Mutation , Mutation in Brief #763(2004) Online
Print Citation: Volume 24, Issue 6, pages 534-535

 Large BRCA1 Gene Deletions Are Found in 3% of German High-risk Breast Cancer Families
Carolin Hartmann, Anika L. John, Rüdiger Klaes, Wera Hofmann, Rainer Bielen, Rolf Koehler, Bart Janssen, Claus R. Bartram, Norbert Arnold, and Johannes Zschocke
Received February 5, 2004; accepted August 27, 2004.
Online Citation: Human Mutation , Mutation in Brief #762(2004) Online
Print Citation: Volume 24, Issue 6, page 534

 Six Novel Alleles Identified in Italian Hereditary Fructose Intolerance Patients Enlarge the Mutation Spectrum of the Aldolase B Gene
Gabriella Esposito, Rita Santamaria, Luigi Vitagliano, Luigi Ieno, Antonietta Viola, Laura Fiori, Giancarlo Parenti, Lucia Zancan, Adriana Zagari, and Francesco Salvatore
Received May 10, 2004; accepted August 25, 2004.
Online Citation: Human Mutation , Mutation in Brief #761(2004) Online
Print Citation: Volume 24, Issue 6, page 534

 Spectrum of PTCH Mutations in Italian Nevoid Basal Cell-Carcinoma Syndrome Patients: Identification of Thirteen Novel Alleles
Maria Savino, Maria d’Apolito, Vincenza Formica, Filomena Baorda, Francesca Mari, Alessandra Renieri, Enrico Carabba, Enrico Tarantino, Elena Andreucci, Serena Belli, Lorenzo Lo Muzio, Bruno Dallapiccola, Leopoldo Zelante, and Anna Savoia
Received April 6, 2004; accepted August 25, 2004.
Online Citation: Human Mutation , Mutation in Brief #760(2004) Online
Print Citation: Volume 24, Issue 5, page 441

 Homeologous Recombination Between AluSx-Sequences as a Cause of Hemophilia
Liliana C. Rossetti, Anne Goodeve, Irene B. Larripa, and Carlos D. De Brasi
Received May 25, 2004; accepted August 24, 2004.
Online Citation: Human Mutation , Mutation in Brief #759(2004) Online
Print Citation: Volume 24, Issue 5, page 440

 A Point Mutation in the Lariat Branch Point of Intron 6 of NPC1 as the Cause of Abnormal Pre-mRNA Splicing in Niemann-Pick Type C Disease
Enza Di Leo, Francesca Panico, Patrizia Tarugi, Carla Battisti, Antonio Federico, and Sebastiano Calandra
Received April 9, 2004; accepted August 25, 2004.
Online Citation: Human Mutation , Mutation in Brief #758(2004) Online
Print Citation: Volume 24, Issue 5, page 440

 Novel and Recurrent Mutations Clustered in the von Willebrand Factor A Domain of MATN3 in Multiple Epiphyseal Dysplasia
Akihiko Mabuchi, Nobuhiko Haga, Koichi Maeda, Eiji Nakashima, Noriyo Manabe, Hisatada Hiraoka, Hiroshi Kitoh, Rika Kosaki, Gen Nishimura, Hirofumi Ohashi, and Shiro Ikegawa
Received June 24, 2004; accepted August 19, 2004.
Online Citation: Human Mutation , Mutation in Brief #757(2004) Online
Print Citation: Volume 24, Issue 5, pages 439-440

 Mutation Analysis of NR2E3 and NRL Genes in Enhanced S Cone Syndrome
Alan F. Wright, Adam C. Reddick, Sharon B. Schwartz, Julie S. Ferguson, Tomas S. Aleman, Ulrich Kellner, Bernhard Jurklies, Andreas Schuster, Eberhart Zrenner, Bernd Wissinger, Alan Lennon, Xinhua Shu, Artur V. Cideciyan, Edwin M. Stone, Samuel G. Jacobson, and Anand Swaroop
Received February 16, 2004; accepted August 18, 2004.
Online Citation: Human Mutation , Mutation in Brief #756(2004) Online
Print Citation: Volume 24, Issue 5, page 439

 ABCC6 Mutations in Italian Families Affected by Pseudoxanthoma Elasticum (PXE)
Dealba Gheduzzi, Rita Guidetti, Claudia Anzivino, Patrizia Tarugi, Enza Di Leo, Daniela Quaglino, and Ivonne Pasquali Ronchetti
Received May 18, 2004; accepted August 13, 2004.
Online Citation: Human Mutation , Mutation in Brief #755(2004) Online
Print Citation: Volume 24, Issue 5, pages 438-439

 Fine Mapping and Identification of a Candidate Gene SSH1 in Disseminated Superficial Actinic Porokeratosis
Zhenghua Zhang, Zhenmin Niu, Wentao Yuan, Weida Liu, Leihong Xiang, Jing Zhang, Xun Chu, Jingjun Zhao, Faxing Jiang, Bao Chai, Fan Cui, Ying Wang, Kaiyue Zhang, Yi Wang, Shijie Xu, Longqing Xia, Jun Gu, Shoumin Zhang, Xuemei Meng, Shuxia Wang, Shunqiang Gao, Min Fan, Lei Nie, Zhizhong Zheng, and Wei Huang
Received June 9, 2004; accepted August 11, 2004.
Online Citation: Human Mutation , Mutation in Brief #754(2004) Online
Print Citation: Volume 24, Issue 5, page 438

 Germline MUTYH (MYH) Mutations in Portuguese Individuals with Multiple Colorectal Adenomas
Glória Isidro, Francisco Laranjeira, Ana Pires, Júlio Leite, Fernando Regateiro, F. Castro e Sousa, José Soares, Clara Castro, João Giria, Maria J. Brito, Ana Medeira, Ricardo Teixeira, Henrique Morna, Isabel Gaspar, Carla Marinho, Rosa Jorge, António Brehm, J. Silva Ramos, and Maria Guida Boavida
Received April 13, 2004; accepted July 22, 2004.
Online Citation: Human Mutation , Mutation in Brief #753(2004) Online
Print Citation: Volume 24, Issue 4, pages 353-354

 Identification of Novel and Rare Mutations in California Hispanic and African American Cystic Fibrosis Patients
Özgül M. Alper, Lee-Jun C. Wong, Suzanne Young, Michelle Pear, Steve Graham, John Sherwin, Eliezer Nussbaum, Dennis Nielson, Arnold Platzker, Zoe Davies, Allan Lieberthal, Terry Chin, Greg Shay, Karen Hardy, and Martin Kharrazi
Received March 15, 2004; accepted July 14, 2004.
Link to erratum
Online Citation: Human Mutation , Mutation in Brief #752(2004) Online
Print Citation: Volume 24, Issue 4, page 353

 The Cystathionine β-Synthase (CBS) Mutation c.1224-2A>C in Central Europe: Vitamin B6 Nonresponsiveness and a Common Ancestral Haplotype
Michael Linnebank, Miroslav Janosik, Viktor Kozich, Ewa Pronicka, Jolanta Kubalska, Jitka Sokolova, Anja Linnebank, Eva Schmidt, Christina Leyendecker, Thomas Klockgether, Jan Peter Kraus, and Hans Georg Koch
Received March 29, 2004; accepted July 12, 2004.
Online Citation: Human Mutation , Mutation in Brief #751(2004) Online
Print Citation: Volume 24, Issue 4, pages 352-353

 Four Novel Mutations in Patients From the Middle East With the Infantile Form of GM1-gangliosidosis
T. Georgiou, A. Drousiotou, Y. Campos, A. Caciotti, L. Sztriha, A. Gururaj, P. Ozand, E. Zammarchi, A. Morrone, and A. D’Azzo
Received February 3, 2004; accepted June 30, 2004.
Link to erratum
Online Citation: Human Mutation , Mutation in Brief #750(2004) Online
Print Citation: Volume 24, Issue 4, page 352

 Ten Novel MSH2 and MLH1 Germline Mutations in Families with HNPCC
Stefan Krüger, Andrea Bier, Jens Plaschke, Ruth Höhl, Daniela E. Aust, Friedmar R. Kreuz, Steffen R. Pistorius, Hans D. Saeger, Veit Rothhammer, Oliver Al-Taie, and Hans K. Schackert
Received March 12, 2004; accepted June 21, 2004.
Online Citation: Human Mutation , Mutation in Brief #749(2004) Online
Print Citation: Volume 24, Issue 4, pages 351-352

 Germline Mutations in MLH1, MSH2 and MSH6 in Korean Hereditary Non-Polyposis Colorectal Cancer Families
Young-Kyoung Shin, Seung-Chul Heo, Joo-Ho Shin, Sung-Hye Hong, Ja-Lok Ku, Byong-Chul Yoo, Il-Jin Kim, and Jae-Gahb Park
Received March 7, 2004; accepted June 21, 2004.
Link to erratum
Online Citation: Human Mutation , Mutation in Brief #748(2004) Online
Print Citation: Volume 24, Issue 4, page 351

 A Novel Aspartylglucosaminuria Mutation Affects Translocation of Aspartylglucosaminidase
Jani Saarela, Carina von Schantz, Leena Peltonen, and Anu Jalanko
Received March 24, 2004; accepted June 18, 2004.
Online Citation: Human Mutation , Mutation in Brief #747(2004) Online
Print Citation: Volume 24, Issue 4, pages 350-351

 BRCA1 and BRCA2 Germline Mutations in Korean Patients with Sporadic Breast Cancer
Jae Hong Seo, Dae-Yeon Cho, Se-Hyun Ahn, Kyung-Sik Yoon, Chang-Soo Kang, Hyun Mi Cho, Hyeon Sook Lee, Jae Jin Choe, Cheul Won Choi, Byung Soo Kim, Sang Won Shin, Yeul Hong Kim, Jun Suk Kim, Gil-Soo Son, Jae-Bok Lee, and Bum Hwan Koo
Received March 22, 2004; accepted June 15, 2004.
Online Citation: Human Mutation , Mutation in Brief #746(2004) Online
Print Citation: Volume 24, Issue 4, page 350

 Erratum: Mutational Analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth Neuropathy Patients
Byung-Ok Choi, Mi Sun Lee, Sang Hee Shin, Jung Hee Hwang, Kyoung-Gyu Choi, Won-Ki Kim, Il Nam Sunwoo, Nam Keun Kim, and Ki Wha Chung
Erratum received July 29, 2004.
Link to original article
Online Citation: Human Mutation , Mutation in Brief #745(2004) Online
Print Citation: Volume 24, Issue 4, page 350

 Erratum: BMPR2 Mutations Found in Japanese Patients With Familial and Sporadic Primary Pulmonary Hypertension
Hiroko Morisaki, Norifumi Nakanishi, Shingo Kyotani, Atsushi Takashima, Hitonobu Tomoike, and Takayuki Morisaki
Erratum received July 12, 2004.
Link to original article
Online Citation: Human Mutation , Mutation in Brief #744(2004) Online
Print Citation: Volume 24, Issue 3, page 275

 Impaired Calmodulin Binding of Myosin-7A Causes Autosomal Dominant Hearing Loss ( DFNA11 )
Hanno Bolz, Steffen-Sebastian Bolz, Götz Schade, Christian Kothe, Gerrit Mohrmann, Markus Hess, and Andreas Gal
Received April 27, 2004; accepted June 11, 2004.
Online Citation: Human Mutation , Mutation in Brief #743(2004) Online
Print Citation: Volume 24, Issue 3, pages 274-275

 Erratum: Novel MC1R Variants in Ligurian Melanoma Patients and Controls
Lorenza Pastorino, Roberto Cusano, William Bruno, Francesca Lantieri, Paola Origone, Monica Barile, Sara Gliori, Graeme A. Shepherd, Richard A. Sturm, and Giovanna Bianchi-Scarra
Erratum received July 6, 2004.
Link to original article
Online Citation: Human Mutation , Mutation in Brief #742(2004) Online
Print Citation: Volume 24, Issue 3, page 274

 Splice-Site Genetic Polymorphism of the Human Kallikrein 12 ( KLK12 ) Gene Correlates with No Substantial Expression of KLK12 Protein Having Serine Protease Activity
Kazuya Shinmura, Hong Tao, Hidetaka Yamada, Hideki Kataoka, Ravshanov Sanjar, Jiandong Wang, Kimio Yoshimura, and Haruhiko Sugimura
Received December 9, 2003; accepted May 27, 2004.
Online Citation: Human Mutation , Mutation in Brief #741(2004) Online
Print Citation: Volume 24, Issue 3, pages 273-274

 IL1RAPL1 Is Associated with Mental Retardation in Patients with Complex Glycerol Kinase Deficiency Who Have Deletions Extending Telomeric of DAX1
Yao-Hua Zhang, Bing-Ling Huang, Kathy K. Niakan, Linda L. McCabe, Edward R.B. McCabe, and Katrina M. Dipple
Received February 9, 2004; accepted May 27, 2004.
Online Citation: Human Mutation , Mutation in Brief #740(2004) Online
Print Citation: Volume 24, Issue 3, page 273

 Evidence for Mutational Cis-Acting Factors Affecting Mutagenesis in the Ornithine Transcarbamylase Gene
Luísa Azevedo, Consuelo Climent, Laura Vilarinho, F. Calafell, and António Amorim
Received October 9, 2003; accepted May 26, 2004.
Online Citation: Human Mutation , Mutation in Brief #739(2004) Online
Print Citation: Volume 24, Issue 3, page 273

 RNA Analysis Reveals Splicing Mutations and Loss of Expression Defects in MLH1 and BRCA1
Andrew Sharp, Gabriella Pichert, Anneke Lucassen, and Diana Eccles
Received March 9, 2004; accepted May 25, 2004.
Online Citation: Human Mutation , Mutation in Brief #738(2004) Online
Print Citation: Volume 24, Issue 3, page 272

 Carbonic Anhydrase II Deficiency Syndrome (Osteopetrosis with Renal Tubular Acidosis and Brain Calcification): Novel Mutations in CA2 Identified by Direct Sequencing Expand the Opportunity for Genotype-Phenotype Correlation
Gul N. Shah, Giuseppe Bonapace, Peiyi Y. Hu, Pietro Strisciuglio, and William S. Sly
Received December 15, 2003; accepted May 24, 2004.
Online Citation: Human Mutation , Mutation in Brief #737(2004) Online
Print Citation: Volume 24, Issue 3, page 272

 Mucopolysaccharidosis IVA (Morquio A): Identification of Novel Common Mutations in the N-Acetylgalactosamine-6-sulfate sulfatase (GALNS) Gene in Italian Patients
Shunji Tomatsu, Mirella Filocamo, Koji O. Orii, William S. Sly, Monica A. Gutierrez, Tatsuo Nishioka, Olga Peña Serrato, Paola Di Natale, Adriana Maria Montaño, Seiji Yamaguchi, Naomi Kondo, Tadao Orii, and Akihiko Noguchi
Received December 3, 2003; accepted May 18, 2004.
Online Citation: Human Mutation , Mutation in Brief #736(2004) Online
Print Citation: Volume 24, Issue 2, pages 187-188

 Molecular Characterization of Familial Hypercholesterolemia in Spain: Identification of 39 Novel and 77 Recurrent Mutations in LDLR
Pilar Mozas, Sergio Castillo, Diego Tejedor, Gilberto Reyes, Rodrigo Alonso, Miguel Franco, Pedro Saenz, Francisco Fuentes, Fátima Almagro, Pedro Mata, and Miguel Pocoví, on behalf of Spanish Group of FH
Received November 12, 2003; accepted May 18, 2004.
Online Citation: Human Mutation , Mutation in Brief #735(2004) Online
Print Citation: Volume 24, Issue 2, page 187

 Acid Sphingomyelinase: Identification of Nine Novel Mutations Among Italian Niemann Pick Type B Patients and Characterization of in vivo Functional In-frame Start Codon
M.G. Pittis, V. Ricci, V. I. Guerci, C. Marçais, G. Ciana, A. Dardis, F. Gerin, M. Stroppiano, M.T. Vanier, M. Filocamo, and B. Bembi
Received March 4, 2004; accepted May 17, 2004.
Online Citation: Human Mutation , Mutation in Brief #734(2004) Online
Print Citation: Volume 24, Issue 2, pages 186-187

 Sjögren-Larsson Syndrome: Seven Novel Mutations in the Fatty Aldehyde Dehydrogenase Gene ALDH3A2
Gael Carney, Shu Wei, and William B. Rizzo
Received February 20, 2004; accepted May 17, 2004.
Online Citation: Human Mutation , Mutation in Brief #733(2004) Online
Print Citation: Volume 24, Issue 2, page 186

 Mutational Analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth Neuropathy Patients
Byung-Ok Choi, Mi Sun Lee, Sang Hee Shin, Jung Hee Hwang, Kyoung-Gyu Choi, Won-Ki Kim, Il Nam Sunwoo, Nam Keun Kim, and Ki Wha Chung
Received January 20, 2004; accepted May 12, 2004.
Online Citation: Human Mutation , Mutation in Brief #732(2004) Online
Link to erratum
Print Citation: Volume 24, Issue 2, pages 185-186

 Characterization of Three Myotonia-associated Mutations of the CLCN1 Chloride Channel Gene via Heterologous Expression
Bronwyn J. Simpson, Tamara A. Height, Grigori Y. Rychkov, Kristen J. Nowak, Nigel G. Laing, Bernard P. Hughes, and Allan H. Bretag
Received June 10, 2003; accepted May 12, 2004.
Online Citation: Human Mutation , Mutation in Brief #731(2004) Online
Print Citation: Volume 24, Issue 2, page 185

 USH2A Mutation Analysis in 70 Dutch Families With Usher Syndrome Type II
Ronald J.E. Pennings, Heleen te Brinke, Michael D. Weston, Annemarie Claassen, Dana J. Orten, Henriëtte Weekamp, Annelies van Aarem, Patrick L.M. Huygen, August F. Deutman, Lies H. Hoefsloot, Frans P.M. Cremers, Cor W.R.J. Cremers, William J. Kimberling, and Hannie Kremer
Received October 17, 2003; accepted April 26, 2004.
Online Citation: Human Mutation , Mutation in Brief #730(2004) Online
Print Citation: Volume 24, Issue 2, page 185

 Screening of 25 Italian Patients With Niemann-Pick A Reveals Fourteen New Mutations, One Common and Thirteen Private, in SMPD1
V. Ricci, M. Stroppiano, F. Corsolini, M. Di Rocco, G. Parenti, S. Regis, S. Grossi, R. Biancheri, R. Mazzotti, and M. Filocamo
Received December 10, 2003; accepted May 3, 2004.
Online Citation: Human Mutation , Mutation in Brief #729(2004) Online
Print Citation: Volume 24, Issue 1, pages 104-105

 Maternal MTHFR Variant Forms Increase the Risk in Offspring of Isolated Nonsyndromic Cleft Lip With or Without Cleft Palate
F. Pezzetti, M. Martinelli, L. Scapoli, F. Carinci, A. Palmieri, J. Marchesini, P. Carinci, E. Caramelli, R. Rullo, F. Gombos, and M. Tognon
Received November 5, 2003; accepted April 26, 2004.
Online Citation: Human Mutation , Mutation in Brief #728(2004) Online
Print Citation: Volume 24, Issue 1, page 104

 A CD36 Nonsense Mutation Associated With Insulin Resistance and Familial Type 2 Diabetes
Frédéric Leprêtre, Francis Vasseur, Martine Vaxillaire, Philipp E. Scherer, Saira Ali, Kenneth Linton, Timothy Aitman, and Philippe Froguel
Received October 9, 2003; accepted April 13, 2004.
Online Citation: Human Mutation , Mutation in Brief #727(2004) Online
Print Citation: Volume 24, Issue 1, page 104

 TBX5 Mutations in Non-Holt-Oram Syndrome (HOS) Malformed Hearts
Stella Marie Reamon-Buettner and Juergen Borlak
Received December 22, 2003; accepted April 7, 2004.
Online Citation: Human Mutation , Mutation in Brief #726(2004) Online
Print Citation: Volume 24, Issue 1, page 104

 X-Linked Spondyloepiphyseal Dysplasia Tarda: Novel And Recurrent Mutations In 13 European Families
Jörg Fiedler, Martine Le Merrer, Geert Mortier, Solange Heuertz, Laurence Faivre, and Rolf E. Brenner
Received September 30, 2003; accepted April 7, 2004.
Online Citation: Human Mutation , Mutation in Brief #725(2004) Online
Print Citation: Volume 24, Issue 1, page 103

 Novel MC1R Variants in Ligurian Melanoma Patients and Controls
Lorenza Pastorino, Roberto Cusano, William Bruno, Francesca Lantieri, Paola Origone, Monica Barile, Sara Gliori, Graeme A. Shepherd, Richard A. Sturm, and Giovanna Bianchi Scarra
Received October 6, 2003; accepted February 18, 2004.
Online Citation: Human Mutation , Mutation in Brief #724(2004) Online
Link to erratum
Print Citation: Volume 24, Issue 1, page 103

 Novel GNE Mutations in Italian Families with Autosomal Recessive Hereditary Inclusion-Body Myopathy
Aldobrando Broccolini, Enzo Ricci, Denise Cassandrini, Carla Gliubizzi, Claudio Bruno, Emmanuel Tonoli, Gabriella Silvestri, Mario Pescatori, Carmelo Rodolico, Stefano Sinicropi, Serenella Servidei, Federico Zara, Carlo Minetti, Pietro A. Tonali, and Massimiliano Mirabella
Received January 8, 2003; accepted April 1, 2004.
Online Citation: Human Mutation , Mutation in Brief #723(2004) Online
Print Citation: Volume 23, Issue 6, page 632

 BMPR2 Mutations Found in Japanese Patients With Familial and Sporadic Primary Pulmonary Hypertension
Hiroko Morisaki, Norifumi Nakanishi, Shingo Kyotani, Atsushi Takashima, Hitonobu Tomoike, and Takayuki Morisaki
Received November 28, 2003; accepted March 30, 2004.
Online Citation: Human Mutation , Mutation in Brief #722(2004) Online
Link to erratum
Print Citation: Volume 23, Issue 6, page 632

 GJB2 Mutations in Patients with Non-Syndromic Hearing Loss from Northeastern Hungary
Tímea Tóth, Susan Kupka, Birgit Haack, Kathrin Riemann, Simone Braun, Ferenc Fazakas, Hans-Peter Zenner, László Muszbek, Nikolaus Blin, Markus Pfister, and István Sziklai
Received June 24, 2003; accepted March 19, 2004.
Online Citation: Human Mutation , Mutation in Brief #721(2004) Online
Print Citation: Volume 23, Issue 6, pages 631-632

 Identification and Functional Analysis of Two Novel Mutations in the CBS Gene in Polish Patients with Homocystinuria
Marek Orendáč, Ewa Pronicka, Jolanta Kubalska, Miroslav Janosik, Jitka Sokolová, Michael Linnebank, Hans Georg Koch, and Viktor Kožich
Received October 21, 2003; accepted March 18, 2004.
Online Citation: Human Mutation , Mutation in Brief #720(2004) Online
Print Citation: Volume 23, Issue 6, page 631

 Detection of 53 Novel DNA Variations Within the Tyrosinase Gene and Accumulation of Mutations in 17 Patients with Albinism
Sven Opitz, Barbara Käsmann-Kellner, Markus Kaufmann, Eberhard Schwinger, and Christine Zühlke
Received November 25, 2003; accepted March 15, 2004.
Online Citation: Human Mutation , Mutation in Brief #719(2004) Online
Print Citation: Volume 23, Issue 6, pages 630-631

 Familial Melanoma, Pancreatic Cancer and Germline CDKN2A Mutations
Alisa M. Goldstein
Received September 25, 2003; accepted March 5, 2004.
Online Citation: Human Mutation , Mutation in Brief #718(2004) Online
Print Citation: Volume 23, Issue 6, page 630

 Seven Novel Mutations of the ADAR Gene in Chinese Families and Sporadic Patients with Dyschromatosis Symmetrica Hereditaria (DSH)
Xue-Jun Zhang, Ping-Ping He, Ming Li, Chun-Di He, Kai-Lin Yan, Yong Cui, Sen Yang, Kai-Yue Zhang, Min Gao, Jian-Jun Chen, Cheng-Rang Li, Lin Jin, Hong-Duo Chen, Shi-Jie Xu, and Wei Huang
Received October 30, 2003; accepted March 4, 2004.
Online Citation: Human Mutation

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