Human Mutation

Cover image for Human Mutation

October 2004

Volume 24, Issue 4

Pages 277–354

  1. Mutation Update

    1. Top of page
    2. Mutation Update
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. The role of tau (MAPT) in frontotemporal dementia and related tauopathies (pages 277–295)

      R. Rademakers, M. Cruts and C. van Broeckhoven

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.20086

  2. Databases

    1. Top of page
    2. Mutation Update
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association (pages 296–304)

      Joan A. Murphy, Ramiro Barrantes-Reynolds, Rama Kocherlakota, Jeffrey P. Bond and Marc S. Greenblatt

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.20083

  3. Research Articles

    1. Top of page
    2. Mutation Update
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. GJB2: The spectrum of deafness-causing allele variants and their phenotype (pages 305–311)

      Hela Azaiez, G. Parker Chamberlin, Stephanie M. Fischer, Chelsea L. Welp, Sai D. Prasad, R. Thomas Taggart, Ignacio del Castillo, Guy Van Camp and Richard J. H. Smith

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.20084

    2. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency (pages 312–320)

      Vito Iacobazzi, Federica Invernizzi, Silvia Baratta, Roser Pons, Wendy Chung, Barbara Garavaglia, Carlo Dionisi-Vici, Antonia Ribes, Rossella Parini, Maria Dolores Huertas, Susana Roldan, Graziantonio Lauria, Ferdinando Palmieri and Franco Taroni

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.20085

    3. Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7) (pages 321–329)

      Robert Hering, Karsten M. Strauss, Xiao Tao, Andreas Bauer, Dirk Woitalla, Eva-Maria Mietz, Slobodanka Petrovic, Peter Bauer, Wilhelm Schaible, Thomas Müller, Ludger Schöls, Christine Klein, Daniela Berg, Philipp T. Meyer, Jörg B. Schulz, Bernd Wollnik, Liang Tong, Rejko Krüger and Olaf Riess

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.20089

    4. Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders (pages 330–337)

      Anton V. Persikov, Rian J. Pillitteri, Priyal Amin, Ulrike Schwarze, Peter H. Byers and Barbara Brodsky

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.20091

  4. Methods

    1. Top of page
    2. Mutation Update
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Sequence variations of the α-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE (pages 338–349)

      Giuseppina Lacerra, Mirella Fiorito, Gennaro Musollino, Francesca Di Noce, Maria Esposito, Vincenzo Nigro, Carlo Gaudiano and Clementina Carestia

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.20088

  5. Mutations in Brief

    1. Top of page
    2. Mutation Update
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. You have free access to this content
      Erratum: Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients (page 350)

      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

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.9274

    2. You have free access to this content
      BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer (page 350)

      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

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.9275

    3. You have free access to this content
      A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase (pages 350–351)

      Jani Saarela, Carina von Schantz, Leena Peltonen and Anu Jalanko

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.9276

    4. You have free access to this content
      Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families (page 351)

      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

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.9277

    5. You have free access to this content
      Ten novel MSH2 and MLH1 germline mutations in families with HNPCC (pages 351–352)

      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

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.9278

    6. You have free access to this content
      Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis (page 352)

      T. Georgiou, A. Drousiotou, Y. Campos, A. Caciotti, L. Sztriha, A. Gururaj, P. Ozand, E. Zammarchi, A. Morrone and A. D'Azzo

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.9279

    7. You have free access to this content
      The cystathionine β-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype (pages 352–353)

      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

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.9280

    8. You have free access to this content
      Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients (page 353)

      Özgül M. Alper, Lee-Jun C. Wong, Suzanne Young, Michelle Pearl, Steve Graham, John Sherwin, Eliezer Nussbaum, Dennis Nielson, Arnold Platzker, Zoe Davies, Allan Lieberthal, Terry Chin, Greg Shay, Karen Hardy and Martin Kharrazi

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.9281

    9. You have free access to this content
      Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas (pages 353–354)

      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

      Version of Record online: 30 AUG 2004 | DOI: 10.1002/humu.9282

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