Human Mutation

Cover image for Vol. 35 Issue 9

Edited By: Richard G.H. Cotton and Garry R. Cutting

Impact Factor: 5.05

ISI Journal Citation Reports © Ranking: 2013: 26/164 (Genetics & Heredity)

Online ISSN: 1098-1004

Mutations in Brief: 2001


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

Novel Frameshift Mutations in CRX Associated with Leber Congenital Amaurosis
Carlo Rivolta, Naomi E. Peck, Anne B. Fulton, Gerald A. Fishman, Eliot L. Berson and Thaddeus P. Dryja
Received May 5, 2001; Revised manuscript accepted September 4, 2001
Online Citation: Human Mutation , Mutation in Brief #470(2001) Online
Print Citation: Volume 18, Issue 6, pages 550–551

Molecular and Clinical Characteristics in 32 Families Affected With Familial Adenomatous Polyposis
P. Hutter, C. Rey-Berthod, P.O. Chappuis, A. Couturier, V. Membrez, A. Murphy, F. Joris, D. F. Schorderet, C. Delozier-Blanchet, and C. Soravia
Received August 30, 2001; Revised manuscript accepted September 28, 2001
Online Citation: Human Mutation , Mutation in Brief #469(2001) Online
Print Citation: Volume 18, Issue 6, page 550

Identification and Characterization of Four Novel Large Deletions in the Human Neurofibromatosis Type 1 (NF1) Gene
Li Juan Fang, Dominique Vidaud, Michel Vidaud, and Jean-Paul Thirion
Received August 1, 2001; Revised manuscript accepted September 21, 2001
Online Citation: Human Mutation , Mutation in Brief #468 (2001) Online
Print Citation: Volume 18, Issue 6, pages 549–550

Eight Novel Germline MLH1 and MSH2 Mutations in Hereditary Non-Polyposis Colorectal Cancer Families from Spain
Javier Godino, Miguel de la Hoya, Eduardo Diaz-Rubio, Manuel Benito, and Trinidad Caldés
Received July 2, 2001; Revised manuscript accepted September 28, 2001
Online Citation: Human Mutation , Mutation in Brief #467 (2001) Online
Print Citation: Volume 18, Issue 6, page 549

Cystathionine Beta-Synthase Deficiency in Central Europe: Discrepancy Between Biochemical and Molecular Genetic Screening for Homocystinuric Alleles
J. Sokolová, B. Janošíková, J.D. Terwilliger, T. Freiberger, J. P. Kraus, and V. Kozich
Received May 24, 2001; Revised manuscript accepted September 24, 2001
Online Citation: Human Mutation , Mutation in Brief #466 (2001) Online
Print Citation: Volume 18, Issue 6, pages 548–549

Identification of Five New Mutations of PDS/SLC26A4 in Mediterranean Families with Hearing Impairment
N. López-Bigas, S. Melchionda, R. de Cid, A. Grifa, L. Zelante, N. Govea, M.L. Arbonés, P. Gasparini, and X. Estivill
Received July 16, 2001; Revised manuscript accepted September 21, 2001
Online Citation: Human Mutation , Mutation in Brief #465 (2001) Online
Print Citation: Volume 18, Issue 6, page 548
Link to erratum

Erratum: Identification of a Novel COCH Mutation, I109N, Highlights the Similar Clinical Features Observed in DFNA9 Families
Maria Kamarinos, Jim McGill, Michael Lynch, and Henrik Dahl
Received December 15, 2000; Revised manuscript accepted February 7, 2001
Online Citation: Human Mutation , Mutation in Brief #464 (2001) Online
Print Citation: Volume 18, Issue 6, pages 547–548
Link to original article

Nine Novel Mutations in NR0B1 (DAX1) Causing Adrenal Hypoplasia Congenita
Yao-Hua Zhang, Bing-Ling Huang, Kwame Anyane-Yeboa, Julienne A. R. Carvalho, Robert D. Clemons, Trevor Cole, Bonald C. De Figueiredo, Mark Lubinsky, Daniel L. Metzger, Roberto Quadrelli, David R. Repaske, Soraya Reyno, Laurie H. Seaver, Alicia Vaglio, Guy Van Vliet, Linda L. McCabe, Edward R. B. McCabe, and James K. Phelan
Received May 25, 2001; Revised manuscript accepted July 18, 2001
Online Citation: Human Mutation , Mutation in Brief #463 (2001) Online
Print Citation: Volume 18, Issue 6, page 547

Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome
Paolo Comeglio, Alison L. Evans, Glen W. Brice and Anne H. Child
Received April 13, 2001; Revised manuscript accepted June 12, 2001
Online Citation: Human Mutation , Mutation in Brief #462 (2001) Online
Print Citation: Volume 18, Issue 6, pages 546–547
Link to original article

Seven Novel and Four Recurrent Point Mutations in the Factor VIII (F8C) Gene
Nadja Bogdanova, Beate Lemcke, Arseni Markoff, Hartmut Pollmann, Bernd Dworniczak, Antonin Eigel, and Jürgen Horst
Received June 25, 2001; Revised manuscript accepted September 13, 2001
Online Citation: Human Mutation , Mutation in Brief #461 (2001) Online
Print Citation: Volume 18, Issue 6, page 546

Absence of Deafness-associated Connexin-26 (GJB2) Gene Mutations in the Omani Population
Mehmet Simsek, Nadia Al-Wardy, Aisha Al-Khayat, Muralitharan Shanmugakonar, Talal Al-Bulushi, Mazin Al-Khabory, Sheikha Al-Mujeni, and Samia Al-Harthi
Received June 4, 2001; Revised manuscript accepted September 13, 2001
Online Citation: Human Mutation , Mutation in Brief #460 (2001) Online
Print Citation: Volume 18, Issue 6, pages 545–546

Novel Germline BRCA1 and BRCA2 Mutations in Breast and Breast/Ovarian Cancer Families from the Czech Republic
Eva Machackova, Jiri Damborsky, Dalibor Valik, and Lenka Foretova
Received May 4, 2001; Revised manuscript accepted September 10, 2001
Online Citation: Human Mutation , Mutation in Brief #459 (2001) Online
Print Citation: Volume 18, Issue 6, page 545

A Deletion Mutation in GJB6 Cooperating With a GJB2 Mutation in trans in Non-syndromic Deafness: A Novel Founder Mutation in Ashkenazi Jews
Israela Lerer, Michal Sagi, Ziva Ben-Neriah, Tieling Wang, Haya Levi, and Dvorah Abeliovich
Received August 9, 2001; Revised manuscript accepted August 31, 2001
Online Citation: Human Mutation , Mutation in Brief #458 (2001) Online
Print Citation: Volume 18, Issue 5, page 460

Seven Novel Mutations in the ORNT1 Gene (SLC25A15) in Patients With Hyperornithinemia, Hyperammonemia and Homocitrullinuria Syndrome
S. Salvi, C. Dionisi-Vici, E. Bertini, M. Verardo, and F.M. Santorelli
Received April 18, 2001; Revised manuscript accepted August 20, 2001
Online Citation: Human Mutation , Mutation in Brief #457 (2001) Online
Print Citation: Volume 18, Issue 5, page 460

Novel RB1 Gene Constitutional Mutations Found in Polish Patients with Familial and/or Bilateral Retinoblastoma
Anna Jakubowska, Stanislaw Zajaczek, Olga Haus, Janusz Limon, Ewa Kostyk, Zofia Krzystolik, and Jan Lubinski
Received April 1, 2001; Revised manuscript accepted August 17, 2001
Online Citation: Human Mutation , Mutation in Brief #456 (2001) Online
Print Citation: Volume 18, Issue 5, page 459

Fabry Disease: 20 Novel GLA Mutations in 35 Families
Diana Blaydon, Jane Hill, and Bryan Winchester
Received April 29, 2001; Revised manuscript accepted August 31, 2001
Online Citation: Human Mutation , Mutation in Brief #455 (2001) Online
Print Citation: Volume 18, Issue 5, page 459

Molecular Genetics of Familial Hypercholesterolemia in Spain: Ten Novel LDLR Mutations and Population Analysis
Ana B. García-García, José T. Real, Oscar Puig, Elvira Cebolla, Pablo Marín-García, Jose I. Martínez Ferrandis, Magdalena García-Sogo, Miguel Civera, Juan F. Ascaso, Rafael Carmena, M. Eugenia Armengod, and F. Javier Chaves
Received March 29, 2001; Revised manuscript accepted July 29, 2001
Online Citation: Human Mutation , Mutation in Brief #454 (2001) Online
Print Citation: Volume 18, Issue 5, pages 458–459

Twenty-two Novel LMX1B Mutations Identified in Nail Patella Syndrome (NPS) Patients
Jeanette D. Hamlington, Cheron Jones, and Iain McIntosh
Received July 2, 2001; Revised manuscript accepted August 17, 2001
Online Citation: Human Mutation , Mutation in Brief #453 (2001) Online
Print Citation: Volume 18, Issue 5, page 458

Mutations in ATP-Cassette Binding Proteins G5 (ABCG5) and G8 (ABCG8) Causing Sitosterolemia
Jaroslav A. Hubacek, Knut E. Berge, Jonathan C. Cohen, and Helen H. Hobbs
Received May 16, 2001; Revised manuscript accepted August 13, 2001
Online Citation: Human Mutation , Mutation in Brief #452 (2001) Online
Print Citation: Volume 18, Issue 4, pages 359–360

Low Density Lipoprotein Receptor (LDLR) Gene Mutations in Canadian Subjects With Familial Hypercholesterolemia, But Not of French Descent
Jian Wang, Erin Huff, Lenny Janecka, and Robert A. Hegele
Received May 16, 2001; Revised manuscript accepted August 13, 2001
Online Citation: Human Mutation , Mutation in Brief #451 (2001) Online
Print Citation: Volume 18, Issue 4, page 359

Determination of Lewis FUT3 Gene Mutations by PCR Using Sequence-Specific Primers Enables Efficient Genotyping of Clinical Samples
Ammi Grahn, Anders Elmgren, Lena Åberg, Lola Svensson, Per-Anders Jansson, Peter Lönnroth, and Göran Larson
Received June 15, 2001; Revised manuscript accepted July 20, 2001
Online Citation: Human Mutation , Mutation in Brief #450 (2001) Online
Print Citation: Volume 18, Issue 4, pages 358–359

Genotype-Phenotype Comparison of the Swiss Malignant Hyperthermia Population
Thierry Girard, Albert Urwyler, Kathrin Censier, Clemens R. Mueller, Francesco Zorzato, and Susan Treves
Received July 5, 2001; Revised manuscript accepted August 9, 2001
Online Citation: Human Mutation , Mutation in Brief #449 (2001) Online
Print Citation: Volume 18, Issue 4, pages 357–358

Oncogenic Levels of Mitogen-Activated Protein Kinase (MAPK) Signaling of the Dinucleotide KRAS2 Mutations G12F and GG12-13VC
David M. Feldser and Scott E. Kern
Received July 1, 2001; Revised manuscript accepted August 3, 2001
Online Citation: Human Mutation , Mutation in Brief #448 (2001) Online
Print Citation: Volume 18, Issue 4, page 357

Studies of the Variability of the Hepatocyte Nuclear Factor-1b (HNF-1b / TCF2) and the Dimerization Cofactor of HNF-1 (DcoH / PCBD) Genes in Relation to Type 2 Diabetes Mellitus and b-Cell Function
Jakob Ek, Niels Grarup, Søren A. Urhammer, Peter H. Gæde, Thomas Drivsholm, Knut Borch-Johnsen, Torben Hansen, and Oluf Pedersen
Received July 5, 2001; Revised manuscript accepted August 2, 2001
Online Citation: Human Mutation , Mutation in Brief #447 (2001) Online
Print Citation: Volume 18, Issue 4, pages 356–357

Bruton Tyrosine Kinase Gene Mutations in Turkish Patients With Presumed X-linked Agammaglobulinemia
Yue Wang, Hirokazu Kanegane, Ozden Sanal, Fügen Ersoy, Ilhan Tezcan, Takeshi Futatani, Satoshi Tsukada, and Toshio Miyawaki
Received May 7, 2001; Revised manuscript accepted July 31, 2001
Online Citation: Human Mutation , Mutation in Brief #446 (2001) Online
Print Citation: Volume 18, Issue 4, page 356

Eleven Novel JAK3 Mutations in Patients With Severe Combined Immunodeficiency-Including the First Patients With Mutations in the Kinase Domain
Patrizia Mella, Richard Fabian Schumacher, Treena Cranston, Genevieve de Saint Basile, Gianfranco Savoldi, and Luigi D Notarangelo
Received May 7, 2001; Revised manuscript accepted July 17, 2001
Online Citation: Human Mutation , Mutation in Brief #445 (2001) Online
Print Citation: Volume 18, Issue 4, pages 355–356

Mutation Analysis of the Adenomatous Polyposis Coli (APC) Gene in Northwest Spanish Patients With Familial Adenomatous Polyposis (FAP) and Sporadic Colorectal Cancer
Clara Ruiz-Ponte, Ana Vega, Angel Carracedo, and Francisco Barros
Received March 27, 2001; Revised manuscript accepted June 22, 2001
Online Citation: Human Mutation , Mutation in Brief #444 (2001) Online
Print Citation: Volume 18, Issue 4, page 355

Molecular Analysis of Japanese Patients With Rett Syndrome: Identification of Five Novel Mutations and Genotype-Phenotype Correlation
Yasukazu Yamada, Kiyokuni Miura, Toshiyuki Kumagai, Chiemi Hayakawa, Shuji Miyazaki, Akiko Matsumoto, Kenji Kurosawa, Noriko Nomura, Hiroko Taniguchi, Shin-ichi Sonta, Tsutomu Yamanaka, and Nobuaki Wakamatsu
Received April 26, 2001; Revised manuscript accepted July 6, 2001
Online Citation: Human Mutation , Mutation in Brief #443 (2001) Online
Print Citation: Volume 18, Issue 3, page 253

Spectrum of Low Density Lipoprotein Receptor Mutations in Czech Hypercholesterolemic Patients
Viera Kuhrová, Hana Francová, Petra Zapletalová, Tomáš Freiberger, Lenka Fajkusová, Eva Hrabincová, Romana Slováková, and Libor Kozák
Received March 15, 2001; Revised manuscript accepted June 20, 2001
Online Citation: Human Mutation , Mutation in Brief #442 (2001) Online
Print Citation: Volume 18, Issue 3, page 253
Link to original article

Identification of Four Novel RB1 Germline Mutations in Korean Retinoblastoma Patients
Young Suk Yu, Il-Jin Kim, Ja-Lok Ku, and Jae-Gahb Park
Received August 2, 2000; Revised manuscript accepted June 27, 2001
Online Citation: Human Mutation , Mutation in Brief #441 (2001) Online
Print Citation: Volume 18, Issue 3, page 252

Molecular Basis of Phenylketonuria in Cuba
L.R. Desviat, B. Pérez, E. Gutierrez, A. Sánchez, B. Barrios, and M. Ugarte
Received March 15, 2001; Revised manuscript accepted June 20, 2001
Online Citation: Human Mutation , Mutation in Brief #440 (2001) Online
Print Citation: Volume 18, Issue 3, page 252

Five Novel Frameshift Mutations in Exon 3 and 4 of the MECP2 Gene Identified in Rett Patients: Consequences for the Molecular Diagnosis Strategy
Thierry Bienvenu, Isabelle Souville, Karine Poirier, Cécile Aquaviva, Lydie Burglen, Jeanne Amiel, Bénédicte Héron, Anna Kaminska, Philippe Couvert, Cherif Beldjord, and Jamel Chelly
Received March 14, 2001; Revised manuscript accepted June 20, 2001
Online Citation: Human Mutation , Mutation in Brief #439 (2001) Online
Print Citation: Volume 18, Issue 3, pages 251-225

Detection of Six Novel FBN1 Mutations in British Patients Affected by Marfan Syndrome
Paolo Comeglio, Alison L. Evans, Glen W. Brice, and Anne H. Child
Received April 13, 2001; Revised manuscript accepted June 12, 2001
Online Citation: Human Mutation , Mutation in Brief #438 (2001) Online
Print Citation: Volume 18, Issue 3, page 251
Link to erratum

Population Screening if F508del (DF508), the Most Frequent Mutation in the CFTR Gene Associated With Cystic Fibrosis in Argentina
María Roqué, Clara Pott Godoy, Mariana Castellanos, Eduardo Pusiol, and Luis S. Mayorga
Received February 13, 2001; Revised manuscript accepted June 7, 2001
Online Citation: Human Mutation , Mutation in Brief #437 (2001) Online
Print Citation: Volume 18, Issue 2, page 167

Analysis of the Entire Coding Region of the Cystic Fibrosis Transmembrane Regulator Gene in Idiopathic Pancreatitis
Carlo Castellani, Macarena Gomez Lira, Luca Frulloni, Antonella Delmarco, Maria Marzari, Alberto Bonizzato, Giorgio Cavallini, PierFranco Pignatti, and Gianni Mastella
Received April 18, 2001; Revised manuscript accepted June 6, 2001
Online Citation: Human Mutation , Mutation in Brief #436 (2001) Online
Print Citation: Volume 18, Issue 2, page 166

Identification of Recurrent and Novel Mutations in the LDL Receptor Gene in German Patients With Familial Hypercholesterolemia
M. S. Nauck, W. Köster, K. Dörfer, J. Eckes, H. Scharnagl, H. Gierens, H. Nissen, M. A. Nauck, H. Wieland, and Winfried März
Received February 5, 2001; Revised manuscript accepted June 5, 2001
Online Citation: Human Mutation , Mutation in Brief #435 (2001) Online
Print Citation: Volume 18, Issue 2, pages 165-166

Expression and Analysis of CLN2 Variants in CHO Cells: Q100R Represents a Polymorphism, and G389E and R447H Represent Loss-of-Function Mutations
Li Lin and Peter Lobel
Received February 28, 2001; Revised manuscript accepted June 4, 2001
Online Citation: Human Mutation , Mutation in Brief #434 (2001) Online
Print Citation: Volume 18, Issue 2, page 165

Molecular Analysis of 40 Italian Patients With Mucopolysaccharidosis Type II: New Mutations in the Iduronate-2-sulfatase (IDS) Gene
Mirella Filocamo, Gloria Bonuccelli, Fabio Corsolini, Raffaella Mazzotti, Roberto Cusano, and Rosanna Gatti
Received February 20, 2001; Revised manuscript accepted May 21, 2001
Online Citation: Human Mutation , Mutation in Brief #433 (2001) Online
Print Citation: Volume 18, Issue 2, pages 164-165

Four Novel Mutations in the RPE65 Gene in Patients With Leber Congenital Amaurosis
Marcia J. Simovich, Beverly Miller, Hany Ezzeldin, Bryan T. Kirkland, Genevieve McLeod, Chere Fulmer, Jeremy Nathans, Samuel G. Jacobson, and Steven J. Pittler
Received March 14, 2001; Revised manuscript accepted May 10, 2001
Online Citation: Human Mutation , Mutation in Brief #432 (2001) Online
Print Citation: Volume 18, Issue 2, page 164

Evidence of a Founder Mutation of BRCA1 in a Highly Homogeneous Population From Southern Italy With Breast/Ovarian Cancer
Francesco Baudi, Barbara Quaresima, Cristina Grandinetti, Giovanni Cuda, Concetta Faniello, Pierfrancesco Tassone, Vito Barbieri, Roberta Bisegna, Enrico Ricevuto, Serafino Conforti, Alessandra Viel, Paolo Marchetti, Corrado Ficorella, Paolo Radice, Francesco Costanzo, and Salvatore Venuta
Received March 2, 2001; Revised manuscript accepted May 10, 2001
Online Citation: Human Mutation , Mutation in Brief #431 (2001) Online
Print Citation: Volume 18, Issue 2, pages 163-164

Characterization of 11 Novel Mutations in the X-linked Chronic Granulomatous Disease (CYBB Gene)
Bénédicte Gérard, Jamel El Benna, Françoise Alcain, Marie-Anne Gougerot-Pocidalo, Bernard Grandchamp, and Sylvie Chollet-Martin
Received February 15, 2001; Revised manuscript accepted May 8, 2001
Online Citation: Human Mutation , Mutation in Brief #430 (2001) Online
Print Citation: Volume 18, Issue 2, page 163

Pseudoxanthoma Elasticum: Point Mutations in the ABCC6 Gene and a Large Deletion Including Also ABCC1 and MYH11
Ilaria Meloni, Pietro Rubegni, Giovambattista De Aloe, Mirella Bruttini, Elisa Pianigiani, Roberto Cusano, Marco Seri, Sergio Mondillo, Antonio Federico, Anna Maria Bardelli, Lucio Andreassi, Michele Fimiani, and Alessandra Renieri
Received March 8, 2001; Revised manuscript accepted April 18, 2001
Online Citation: Human Mutation , Mutation in Brief #429 (2001) Online
Print Citation: Volume 18, Issue 1, page 85

Pattern of Connexin 26 (GJB2) Mutations Causing Sensorineural Hearing Impairment in Ghana
Christoph Hamelmann, Geoffrey K. Amedofu, Katrin Albrecht, Birgit Muntau, Annette Gelhaus, George W. Brobby, and Rolf D. Horstmann
Received March 1, 2001; Revised manuscript accepted April 18, 2001
Online Citation: Human Mutation , Mutation in Brief #428 (2001) Online
Print Citation: Volume 18, Issue 1, pages 84-85

Molecular Analysis of Bruton´s Tyrosine Kinase Gene in Spain
Ma. Cruz García Rodríguez, Eduardo López Granados, Antonio Ferreira Cerdán, and Gumersindo Fontán Casariego
Received February 5, 2001; Revised manuscript accepted April 18, 2001
Online Citation: Human Mutation , Mutation in Brief #427 (2001) Online
Print Citation: Volume 18, Issue 1, page 84

Twelve Novel Mutations in the Tissue-Nonspecific Alkaline Phosphatase Gene (ALPL) in Patients With Various Forms of Hypophosphatasia
A. Taillandier, A.S. Lia-Baldini, M. Mouchard, B. Robin, F. Muller, B. Simon-Bouy, J.L. Serre, A. Bera-Louville, M. Bonduelle, J. Eckhardt, D. Gaillard, A. G. Myhre, S. Körtge-Jung, L. Larget-Piet, E. Malou1, D. Sillence, I.K. Temple, G. Viot, and E. Mornet
Received January 25, 2001; Revised manuscript accepted April 18, 2001
Online Citation: Human Mutation , Mutation in Brief #426 (2001) Online
Print Citation: Volume 18, Issue 1, pages 83-84

Identification of Three Novel 6-Pyruvoyl-tetrahydropterin Synthase Gene Mutations (226C>T, IVS3 1G>A, 116-119delTGTT) in Chinese Hyperphenylalaninemia Caused by Tetrahydrobiopterin Synthesis Deficiency
Tze-Tze Liu, Yu-Hsin Chang, Szu-Hui Chiang, Yan-Ling Yang, Wei-Min Yu, and Kwang-Jen Hsiao
Received September 16, 2000; Revised manuscript accepted April 12, 2001
Online Citation: Human Mutation , Mutation in Brief #425 (2001) Online
Print Citation: Volume 18, Issue 1, page 83

Molecular Analysis of Phenylketonuria (PKU) in Newborns From Texas
Y. Yang, M. Drummond-Borg, and J. Garcia-Heras
Received January 24, 2001; Revised manuscript accepted March 30, 2001
Online Citation: Human Mutation , Mutation in Brief #424 (2001) Online
Print Citation: Volume 17, Issue 6, page 523

Sequence Analysis and Transcript Identification Within 1.5 MB of DNA Deleted Together With the NDP and MAO Genes in Atypical Norrie Disease Patients Presenting With a Profound Phenotype
B. Suarez-Merino, J. Bye, J. McDowall, M. Ross, and I.W. Craig
Received November 29, 2000; Revised manuscript accepted March 30, 2001
Online Citation: Human Mutation , Mutation in Brief #423 (2001) Online
Print Citation: Volume 17, Issue 6, page 523

Novel Mutations in the Emerin Gene in Israeli Families
Yoram Nevo, Sarit Ahituv, Yuval Yaron, Merav Kedmi, Ruth Shomrat, Cyril Legum, and Avi Orr-Urtreger
Received September 28, 2000; Revised manuscript accepted March 29, 2001
Online Citation: Human Mutation , Mutation in Brief #422 (2001) Online
Print Citation: Volume 17, Issue 6, page 522

Mutations in the Connexin26 / GJB2 Gene Are the Most Common Event in Non-syndromic Hearing Loss Among the German Population
Heinz Gabriel, Petra Kupsch, Jürgen Sudendey, Elke Winterhager, Klaus Jahnke, and Jurgen Lautermann
Received February 13, 2001; Revised manuscript accepted March 28, 2001
Online Citation: Human Mutation , Mutation in Brief #421 (2001) Online
Print Citation: Volume 17, Issue 6, pages 521-522

Four Novel MSH2 and MLH1 Frameshift Mutations and Occurrence of a Breast Cancer Phenocopy in Hereditary Nonpolyposis Colorectal Cancer
Oana Caluseriu, Emanuela Lucci Cordisco, Alessandra Viel, Silvia Majore, Riccardo Nascimbeni, Salvatore Pucciarelli, and Maurizio Genuardi
Received January 10, 2001; Revised manuscript accepted March 28, 2001
Online Citation: Human Mutation

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