Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

1999

Volume 14, Issue 1

Pages 1–93

  1. Review Article

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Erratum
    7. Corrigenda
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. IARC p53 mutation database: A relational database to compile and analyze p53 mutations in human tumors and cell lines (pages 1–8)

      Tina Hernandez-Boussard, Patricia Rodriguez-Tome, Ruggero Montesano and Pierre Hainaut

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<1::AID-HUMU1>3.0.CO;2-H

  2. Mutation Update

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Erratum
    7. Corrigenda
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy (pages 9–22)

      James E. Cleaver, Larry H. Thompson, Audrey S. Richardson and J. Christopher States

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6

  3. Research Articles

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Erratum
    7. Corrigenda
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism (pages 23–29)

      Benjamin Glaser, Judith Furth, Charles A. Stanley, Lester Baker, Paul S. Thornton, Heddy Landau and M. Alan Permutt

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<23::AID-HUMU3>3.0.CO;2-#

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      Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency (pages 30–39)

      Yolanda Espinosa-Parrilla, Marta Morell, Joan Carles Souto, Isabel Tirado, Jordi Fontcuberta, Xavier Estivill and Núria Sala

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<30::AID-HUMU4>3.0.CO;2-X

    3. C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian gypsy population (pages 40–44)

      Albena Todorova, Angel Ashikov, Olga Beltcheva, Ivailo Tournev and Ivo Kremensky

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<40::AID-HUMU5>3.0.CO;2-R

    4. Identification of a common PEX1 mutation in Zellweger syndrome (pages 45–53)

      Cynthia S. Collins and Stephen J. Gould

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J

    5. Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes (pages 54–66)

      Vanessa Lemahieu, J.M. Gastier and Uta Francke

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<54::AID-HUMU7>3.0.CO;2-E

    6. No linkage of P187S polymorphism in NAD(P)H: Quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population (pages 67–70)

      Ole P. Kristiansen, Zenia M. Larsen, Jesper Johannesen, Jørn Nerup, Thomas Mandrup-Poulsen and Flemming Pociot

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<67::AID-HUMU8>3.0.CO;2-5

  4. Methods

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Erratum
    7. Corrigenda
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. A methylation PCR approach for detection of fragile X syndrome (pages 71–79)

      Ioannis Panagopoulos, Carin Lassen, Ulf Kristoffersson and Pierre Åman

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<71::AID-HUMU9>3.0.CO;2-5

    2. Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresis (pages 80–83)

      Martine Gabolde, Shanmugakonar Muralitharan and Claude Besmond

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<80::AID-HUMU10>3.0.CO;2-J

  5. Erratum

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Erratum
    7. Corrigenda
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
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      WRN mutations in Werner Syndrome (pages 84–85)

      Michael J. Moser, Junko Oshima and Raymond J. Monnat Jr.

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<84::AID-HUMU11>3.0.CO;2-4

  6. Corrigenda

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Erratum
    7. Corrigenda
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
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      Corrigenda (page 86)

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<86::AID-HUMU12>3.0.CO;2-W

  7. Mutations in Brief

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Erratum
    7. Corrigenda
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
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      Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia (page 87)

      Hiroaki Hattori, Makoto Nagano, Fujihiko Iwata, Yasuhiko Homma, Tohru Egashira and Tomoo Okada

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU13>3.0.CO;2-Q

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      Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: Characterisation of 6 novel mutations (page 87)

      Catherine Hartog, Alan Fryer and Meena Upadhyaya

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU14>3.0.CO;2-N

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      Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations (page 88)

      Regina Haas, Bertha Gutierrez-Rivero, Judith Knoche, Klaus Böker, Michael P. Manns and Hartmut H.-J. Schmidt

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU15>3.0.CO;2-H

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      Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C] in Spanish Gaucher disease patients (page 88)

      Alfonso J. Sarria, Pilar Giraldo, Juan I. Perez-Calvo and Miguel Pocoví

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU16>3.0.CO;2-E

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      Spectrum of CFTR mutations in the middle north of Spain and identification of a novel mutation (1341G→A) (page 89)

      J.J. Tellería, M.J. Alonso, C. Calvo, M. Alonso and A. Blanco

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU17>3.0.CO;2-8

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      Identification of novel mutations in the PCCB gene in European propionic acidemia patients (pages 89–90)

      Silvia Muro, Pilar Rodríguez-Pombo, Belén Pérez, Celia Pérez-Cerdá, Lourdes R. Desviat, Wolfgang Sperl, Daniela Skladal, Jörn Oliver Sass and Magdalena Ugarte

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5

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      A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease (page 90)

      Naoya Sugiyama, Kyoko Suzuki, Takehiko Matsumura, Chiaki Kawanishi, Hideki Onishi, Yoshiteru Yamada, Eizo Iseki and Kenji Kosaka

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<90::AID-HUMU19>3.0.CO;2-S

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      A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia (pages 90–91)

      Nils Krone, Andreas Braun, Adelbert Anton Roscher and Hans Peter Schwarz

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<90::AID-HUMU20>3.0.CO;2-H

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      Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia (page 91)

      Pascale Trioche, Jeanne Francoual, Jacqueline Chalas, Liliane Capel, Olivier Bernard and Philippe Labrune

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU21>3.0.CO;2-B

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      Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis (page 91)

      Ruth Gershoni-Baruch, Ilana Kepten, Marwan Shinawi and Riva Brik

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU22>3.0.CO;2-8

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      Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia (page 92)

      Bela Csokay, Laima Tihomirova, Aivars Stengrevics, Olga Sinicka and Edith Olah

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<92::AID-HUMU23>3.0.CO;2-2

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      Erratum: Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site (page 92)

      Lorel M. Colgin, Alden F.M. Hackmann and Raymond J. Monnat Jr.

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<92::AID-HUMU24>3.0.CO;2-#

  8. Mutation and Polymorphism Reports

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Erratum
    7. Corrigenda
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. A novel intragenetic PVUII marker in the human neuronal nicotinic acetylcholine receptor a4 subunit gene (CHRNA4) (page 93)

      Hiromi Iwata, Shinichi Hirose, Hidetaka Akiyoshi, Sunao Kaneko and Akihisa Mitsudome

      Article first published online: 1 JUL 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:1<93::AID-HUMU25>3.0.CO;2-U

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