Human Mutation

Cover image for Human Mutation

November 2001

Volume 18, Issue 5

Pages 361–460

  1. Review Article

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Databases
    5. Research Articles
    6. Methods
    7. Mutations in Brief
    1. Missense mutations of human homeoboxes: A review (pages 361–374)

      Angela V. D’Elia, Gianluca Tell, Igor Paron, Lucia Pellizzari, Renata Lonigro and Giuseppe Damante

      Version of Record online: 9 OCT 2001 | DOI: 10.1002/humu.1207

  2. Mutation Update

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Databases
    5. Research Articles
    6. Methods
    7. Mutations in Brief
    1. Mutations in BTD causing biotinidase deficiency (pages 375–381)

      Jeanne Hymes, Christine M. Stanley and Barry Wolf

      Version of Record online: 9 OCT 2001 | DOI: 10.1002/humu.1208

  3. Databases

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Databases
    5. Research Articles
    6. Methods
    7. Mutations in Brief
    1. You have free access to this content
      Go!Poly: A gene-oriented polymorphism database (pages 382–387)

      Ge Zhang, Sizhong Zhang, Wei Chen, Weimin Qiu, Hui Wu, Jianmin Wang, Jingchu Luo, Xiaocheng Gu and Richard G.H. Cotton

      Version of Record online: 9 OCT 2001 | DOI: 10.1002/humu.1209

  4. Research Articles

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Databases
    5. Research Articles
    6. Methods
    7. Mutations in Brief
    1. Structural and functional analysis of a new desmin variant causing desmin-related myopathy (pages 388–396)

      Bertrand Goudeau, Ayush Dagvadorj, Fernando Rodrigues-Lima, Patrick Nédellec, Monique Casteras-Simon, Emmanuelle Perret, Sylvie Langlois, Lev Goldfarb and Patrick Vicart

      Version of Record online: 9 OCT 2001 | DOI: 10.1002/humu.1210

    2. Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41 (pages 422–434)

      Yoriko Watanabe, Jeffrey C. Murray, Bryan C. Bjork, Christine P. Bird, P.-W. Chiang, Simon G. Gregory, David M. Kurnit and Brian C. Schutte

      Version of Record online: 9 OCT 2001 | DOI: 10.1002/humu.1213

    3. A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome (pages 435–443)

      Makiko Mizunuma, Shin Fujimori, Hitoshi Ogino, Takamasa Ueno, Hirokazu Inoue and Naoyuki Kamatani

      Version of Record online: 9 OCT 2001 | DOI: 10.1002/humu.1214

    4. Variability of the CD36 gene in West Africa (pages 444–450)

      Annette Gelhaus, Andreas Scheding, Edmund Browne, Gerd D. Burchard and Rolf D. Horstmann

      Version of Record online: 9 OCT 2001 | DOI: 10.1002/humu.1215

  5. Methods

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Databases
    5. Research Articles
    6. Methods
    7. Mutations in Brief
    1. Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis (pages 451–457)

      Lars Allan Larsen, Martin Johnson, Candia Brown, Michael Christiansen, Rune Frank-Hansen, Jens Vuust and Paal Skytt Andersen

      Version of Record online: 9 OCT 2001 | DOI: 10.1002/humu.1216

  6. Mutations in Brief

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Databases
    5. Research Articles
    6. Methods
    7. Mutations in Brief
    1. You have free access to this content
      Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients (page 458)

      Jeanette D. Hamlington, Cheron Jones and Iain McIntosh

      Version of Record online: 9 OCT 2001 | DOI: 10.1002/humu.1217

    2. You have free access to this content
      Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis (pages 458–459)

      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

      Version of Record online: 9 OCT 2001 | DOI: 10.1002/humu.1218

    3. You have free access to this content
      Fabry disease: 20 novel GLA mutations in 35 families (page 459)

      Diana Blaydon, Jane Hill and Bryan Winchester

      Version of Record online: 9 OCT 2001 | DOI: 10.1002/humu.1219

    4. You have free access to this content
      Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma (page 459)

      Anna Jakubowska, Stanislaw Zajaczek, Olga Haus, Janusz Limon, Ewa Kostyk, Zofia Krzystolik and Jan Lubinski

      Version of Record online: 9 OCT 2001 | DOI: 10.1002/humu.1220

    5. You have free access to this content
    6. You have free access to this content
      A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews (page 460)

      Israela Lerer, Michal Sagi, Ziva Ben-Neriah, Tieling Wang, Haya Levi and Dvorah Abeliovich

      Version of Record online: 9 OCT 2001 | DOI: 10.1002/humu.1222

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