Human Mutation

Cover image for Human Mutation

1995

Volume 6, Issue 1

Pages fmi–fmi, 1–96

  1. Masthead

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Meeting Reports
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Masthead (page fmi)

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060101

  2. Mutation Updates

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Meeting Reports
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Mutations in muscle phosphofructokinase gene (pages 1–6)

      Nina Raben and Jeffrey B. Sherman

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060102

  3. Meeting Reports

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Meeting Reports
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Where phenotype does not match genotype (pages 7–8)

      James German

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060103

  4. Research Articles

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Meeting Reports
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism (pages 17–22)

      Jennifer Hone, Domenico Accili, Helen Psiachou, Jamie Alghband-Zadeh, Sally Mitton, Efrat Wertheimer, Leonard Sinclair and Simeon I. Taylor

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060105

    2. Detection and genetic analysis of β-thalassemia mutations by competitive oligopriming (pages 30–35)

      Aglaia Athanassiadou, Adamandia Papachatzopoulou and Richard A. Gibbs

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060107

    3. Molecular characterization of galactosemia (Type 1)mutations in Japanese (pages 36–43)

      Jiro Ashino, Yoshiyuki Okano, Itsuzin Suyama, Takeshi Yamazaki, Makoto Yoshino, Jun-Ichi Furuyama, Hsien-Chin Lin, Juergen K. V. Reichardt and Gen Isshiki

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060108

    4. Three novel aniridia mutations in the human PAX6 gene (pages 44–49)

      Aruna Martha, Louise C. Strong, Robert E. Ferrell and Grady F. Saunders

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060109

    5. Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B (pages 50–54)

      Philippe Latour, Françoise Blanquet, Eva Nelis, Christine Bonnebouche, Fraņoise Chapon, Philippe Diraison, Elisabeth Ollagnon, André Dautigny, Danielle Pham-Dinh, Guy Chazot, Michel Boucherat, Christine Van Broeckhoven and Antoon Vandenberghe

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060110

    6. Four novel mutations underlying mild or intermediate forms of α-L-iduronidase deficiency (MPS IS and MPS IH/S) (pages 55–59)

      Phuong T. Tieu, Gideon Bach, Anna Matynia, Michael Hwang and Elizabeth F. Neufeld

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060111

    7. Haplotype analysis in gelsoiin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan (pages 60–65)

      Tiina Paunio, Yoshihide Sunada, Sari Kiuru, Hideo Makishita, Shu-Ichi Ikeda, Jean Weissenbach, Jorma Palo and Leena Peltonen

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060112

    8. Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1 (pages 66–73)

      Si Houn Hahn, Donna Krasnewich, Mark Brantly, Eli Anne Kvittingen and William A. Gahl

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060113

  5. Methods

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Meeting Reports
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3) (pages 77–84)

      Leena Pulkkinen, John A. McGrath, Angela M. Christiano and Jouni Uitto

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060115

  6. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Meeting Reports
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Identification of a one-basepair deletion in exon 6 of the dystrophin gene (pages 85–86)

      Gūl Nihan Kavaslar, Milhan Telatar, Piraye Serdarog̃lu, Feza Deymeer, Coşkun Õzdemir and Asliban Tolun

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060116

    2. Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia (pages 87–88)

      F. Tricot-Guerber, B. Saint-Jore, K. Valenti, T. Foulon, M. Bost and A. J. Hadjian

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060117

    3. An Alul polymorphism in the HEXA gene is common in Ashkenazi and Sephardic Jews, Israeli Arabs, and French Canadians of Quebec and Northern New England (pages 89–90)

      Julia Grinshpun, Rami Khosravi, Lea Peleg, Boleslaw Goldman, Feige Kaplan, Barbara Triggs-Raine and Ruth Navon

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060118

    4. Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α-L-iduronidase gene (pages 91–94)

      Susanna Bunge, Wim J. Kleijer, Cordula Steglich, Michael Beck, Eberhard Schwinger and Andreas Gal

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060119

  7. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Meeting Reports
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Relatively high prevalence of the CFTR mutations, G85E and 1154insTC (pages 95–96)

      Kenneth J. Friedman, Michelle L. Blalock, Ruth A. Heim and Lawrence M. Silverman

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060120

SEARCH

SEARCH BY CITATION