Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

1996

Volume 8, Issue 3

Pages fmi–fmi, i–i, 197–296

  1. Masthead

    1. Top of page
    2. Masthead
    3. Editorial
    4. Special Article
    5. Special Articles
    6. Mutation Updates
    7. Short Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    11. Erratum
    1. Masthead (page fmi)

      Article first published online: 13 JUL 2005 | DOI: 10.1002/humu.1380080301

  2. Editorial

    1. Top of page
    2. Masthead
    3. Editorial
    4. Special Article
    5. Special Articles
    6. Mutation Updates
    7. Short Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    11. Erratum
    1. Editorial (page i)

      R. G. H. Cotton and Haig H. Kazazian Jr.

      Article first published online: 13 JUL 2005 | DOI: 10.1002/humu.1380080304

  3. Special Article

    1. Top of page
    2. Masthead
    3. Editorial
    4. Special Article
    5. Special Articles
    6. Mutation Updates
    7. Short Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    11. Erratum
    1. Update on nomenclature for human gene mutations (pages 197–202)

      Article first published online: 13 JUL 2005 | DOI: 10.1002/humu.1380080302

  4. Special Articles

    1. Top of page
    2. Masthead
    3. Editorial
    4. Special Article
    5. Special Articles
    6. Mutation Updates
    7. Short Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    11. Erratum
    1. Mutation nomenclature: Nicknames, systematic names, and unique identifiers (pages 203–206)

      Ernest Beutler, Victor A. McKusick, Arno G. Motulsky, Charles R. Scriver and Franklin Hutchinson

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<203::AID-HUMU1>3.0.CO;2-A

  5. Mutation Updates

    1. Top of page
    2. Masthead
    3. Editorial
    4. Special Article
    5. Special Articles
    6. Mutation Updates
    7. Short Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    11. Erratum
    1. Glucocerebrosidase (Gaucher disease) (pages 207–213)

      Ernest Beutler and Terri Gelbart

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<207::AID-HUMU2>3.0.CO;2-6

  6. Short Communications

    1. Top of page
    2. Masthead
    3. Editorial
    4. Special Article
    5. Special Articles
    6. Mutation Updates
    7. Short Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    11. Erratum
    1. Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene (pages 214–215)

      Simeon A. Boyadjiev, Amrik Sahota and Jay A. Tischfield

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<214::AID-HUMU3>3.0.CO;2-9

  7. Research Articles

    1. Top of page
    2. Masthead
    3. Editorial
    4. Special Article
    5. Special Articles
    6. Mutation Updates
    7. Short Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    11. Erratum
    1. An additional mitochondrial tRNAIle point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy (pages 216–222)

      F. Merante, T. Myint, I. Tein, L. Benson and B.H. Robinson

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<216::AID-HUMU4>3.0.CO;2-7

    2. Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome (pages 223–228)

      Fay Katz, Steve Hinshelwood, Paul Rutland, Alison Jones, Christine Kinnon and Gareth Morgan

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<223::AID-HUMU5>3.0.CO;2-A

    3. Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes (pages 229–235)

      David Hughes, Andrew Wallace, Joanne Taylor, May Tassabehji, Roger McMahon, Alison Hill, Norman Nevin and Colin Graham

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<229::AID-HUMU6>3.0.CO;2-4

    4. PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems (pages 236–246)

      Per M. Knappskog, Hans Geir Eiken, Aurora Martínez, Ove Bruland, Jaran Apold and Torgeir Flatmark

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<236::AID-HUMU7>3.0.CO;2-7

  8. Methods

    1. Top of page
    2. Masthead
    3. Editorial
    4. Special Article
    5. Special Articles
    6. Mutation Updates
    7. Short Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    11. Erratum
    1. Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: Detection of two novel mutations (pages 247–257)

      Donald Seto and Bruce D. Weintraub

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<247::AID-HUMU8>3.0.CO;2-6

  9. Mutations in Brief

    1. Top of page
    2. Masthead
    3. Editorial
    4. Special Article
    5. Special Articles
    6. Mutation Updates
    7. Short Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    11. Erratum
    1. Ethnic difference in the pattern of K-ras oncogene mutations in human colorectal cancers (pages 258–261)

      Naoko Hayashi, Sachiko Sugai, Isao Ito, Shoji Nakamori, Michio Ogawa and Yusuke Nakamura

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<258::AID-HUMU9>3.0.CO;2-5

    2. Mutation analysis of phenylketonuria in South Brazil (pages 262–264)

      Belén Pérez, Lourdes R. Desviat, Marisel De Lucca, Benjamin Schmidt, Nicole Loghin-Grosso, Roberto Giugliani, Ricardo F. Pires and Magdalena Ugarte

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<262::AID-HUMU10>3.0.CO;2-0

    3. Unequal homologous crossing over resulting in duplication of 36 base pairs within Exon 47 of the COL4A5 gene in a family with Alport syndrome (pages 265–269)

      Eija-Riitta Hämäläinen, Alessandra Renieri, Carmine Pecoraro, Mario De Marchi and Taina Pihlajaniemi

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<265::AID-HUMU11>3.0.CO;2-0

    4. Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families (pages 270–272)

      Takeo Yoshimura, Akio Ohnishi, Tatsunori Yamamoto, Yoshimitsu Fukushima, Mitsuhiro Kitani and Takuro Kobayashi

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<270::AID-HUMU12>3.0.CO;2-#

    5. Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII (pages 273–275)

      Tomoya Hamaguchi, Hiromu Nakajima, Tamio Noguchi, Chisa Nakagawa, Masamichi Kuwajima, Norio Kono, Seiichiro Tarui and Yuji Matsuzawa

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<273::AID-HUMU13>3.0.CO;2-#

    6. Phenylalanine hydroxylase deficiency in a population in Germany: Mutational profile and nine novel mutations (pages 276–279)

      Per Guldberg, Rudolf Mallmann, Karen Friis Henriksen and Flemming Güttler

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<276::AID-HUMU14>3.0.CO;2-#

    7. Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese (pages 280–281)

      Olga Amaral, Eugénia Pinto, Margarida Fortuna, Lucia Lacerda and M.C. Sá Miranda

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.0.CO;2-Z

    8. Detection of new variants in the apolipoprotein B (Apo B) gene by PCR-SSCP (pages 282–285)

      O. Poirier, S. Ricard, I. Behague, C. Souriau, A.E. Evans, D. Arveiler, P. Marques-Vidal, G. Luc, G. Roizes and F. Cambien

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<282::AID-HUMU16>3.0.CO;2-Z

    9. Identification of two new nonsense mutations Q311X and W326X in Exon 2 of the adrenoleukodystrophy (ALD) gene (pages 286–287)

      A. Barceló, M. Girós, V.J. Albiach, J. Vaquerizo, T. Pàmpols and X. Estivill

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<286::AID-HUMU17>3.0.CO;2-Z

    10. A familial deletion in the Prader-Willi syndrome region including the imprinting control region (pages 288–292)

      Simone Schuffenhauer, Tina Buchholz, Sabine Stengel-Rutkowski, Karin Buiting, Heinrich Schmidt and Thomas Meitinger

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<288::AID-HUMU18>3.0.CO;2-Z

    11. New frameshift mutation, insertion of A, at codon 95 of the β-globin gene causes β-thalassemia in two Vietnamese families (pages 293–294)

      Shiping Cai and Farid F. Chehab

      Article first published online: 8 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1996)8:3<293::AID-HUMU19>3.0.CO;2-Y

  10. Erratum

    1. Top of page
    2. Masthead
    3. Editorial
    4. Special Article
    5. Special Articles
    6. Mutation Updates
    7. Short Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    11. Erratum
    1. You have free access to this content
      Erratum (pages 295–296)

      Article first published online: 13 JUL 2005 | DOI: 10.1002/humu.1380080303

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