Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

1997

Volume 10, Issue 5

Pages 329–414

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Research Articles
    5. Methods/Research Articles
    6. Methods
    1. Imprinting mutations on human chromosome 15 (pages 329–337)

      Bernhard Horsthemke, Bärbel Dittrich and Karin Buiting

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)10:5<329::AID-HUMU1>3.0.CO;2-A

  2. Mutation Updates

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Research Articles
    5. Methods/Research Articles
    6. Methods
    1. Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1) (pages 338–347)

      Anitta Järvikallio, Leena Pulkkinen and Jouni Uitto

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)10:5<338::AID-HUMU2>3.0.CO;2-B

  3. Research Articles

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Research Articles
    5. Methods/Research Articles
    6. Methods
    1. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value (pages 348–358)

      Rolf G. Boot, Carla E. M. Hollak, Marri Verhoek, Paul Sloof, Ben J. H. M. Poorthuis, Wim J. Kleijer, Ron A. Wevers, Marinus H. J. van Oers, Marcel M. A. M. Mannens, Johannes M. F. G. Aerts and Sonja van Weely

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B

    2. Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the β-hexosaminidase α-chain gene in two Portuguese patients (pages 359–360)

      M. Gil Ribeiro, Rui A. Pinto, Kunihiko Suzuki and Maria C. Sá Miranda

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)10:5<359::AID-HUMU4>3.0.CO;2-A

    3. Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele (pages 361–367)

      Kazuko Sukegawa, Xiang-Qian Song, Mitsuo Masuno, Toshiyuki Fukao, Nobuyuki Shimozawa, Seiji Fukuda, Koji Isogai, Hisahide Nishio, Masafumi Matsuo, Shunji Tomatsu, Naomi Kondo and Tadao Orii

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)10:5<361::AID-HUMU5>3.0.CO;2-I

    4. Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene (pages 368–375)

      Shunji Tomatsu, Seiji Fukuda, Alan Cooper, James E. Wraith, Patrick Ferreira, Paola Di Natale, Paolo Tortora, Atsuko Fujimoto, Zenichiro Kato, Naoto Yamada, Kouji Isogai, Atsushi Yamagishi, Kazuko Sukegawa, Yasuyuki Suzuki, Nobuyuki Shimozawa, Naomi Kondo, William S. Sly and Tadao Orii

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)10:5<368::AID-HUMU6>3.0.CO;2-B

    5. APC mutations in familial adenomatous polyposis families in the Northwest of England (pages 376–380)

      John G. Armstrong, D. Rhodri Davies, Simon P. Guy, Ian M. Frayling and D. Gareth R. Evans

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)10:5<376::AID-HUMU7>3.0.CO;2-D

    6. Analysis of multiple mitochondrial DNA deletions in inclusion body myositis (pages 381–386)

      Ali-Reza Moslemi, Christopher Lindberg and Anders Oldfors

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)10:5<381::AID-HUMU8>3.0.CO;2-I

    7. Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients (pages 387–392)

      T Casals, P Pacheco, C Barreto, J Giménez, MD Ramos, S Pereira, JA Pinheiro, N Cobos, A Curvelo, C Vázquez, H Rocha, JL Séculi, E Pérez, J Dapena, E Carrilho, A Duarte, AM Palacio, V Nunes, J Lavinha and X Estivill

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.0.CO;2-C

    8. Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome (pages 393–399)

      Yi-Chun Wang, Mei-Ling Lin, Shio Jean Lin, Yueh-Chun Li and Shuan-Yow Li

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)10:5<393::AID-HUMU10>3.0.CO;2-V

  4. Methods/Research Articles

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Research Articles
    5. Methods/Research Articles
    6. Methods
    1. SSCP analysis of long DNA fragments in low pH gel (pages 400–407)

      Yoji Kukita, Tomoko Tahira, Steve S. Sommer and Kenshi Hayashi

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)10:5<400::AID-HUMU11>3.0.CO;2-3

  5. Methods

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Research Articles
    5. Methods/Research Articles
    6. Methods
    1. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa (pages 408–414)

      Angela M. Christiano, Guy G. Hoffman, Xin Zhang, Yili Xu, Yoshiko Tamai, Daniel S. Greenspan and Jouni Uitto

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)10:5<408::AID-HUMU12>3.0.CO;2-3

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