Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

1999

Volume 13, Issue 1

Pages 1–85

  1. Review Article

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Erratum
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. From gels to chips: “Minisequencing” primer extension for analysis of point mutations and single nucleotide polymorphisms (pages 1–10)

      Ann-Christine Syvänen

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<1::AID-HUMU1>3.0.CO;2-I

  2. Mutation Update

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Erratum
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies (pages 11–28)

      Eva Nelis, Neva Haites and Christine Van Broeckhoven

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A

  3. Research Articles

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Erratum
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox (pages 29–37)

      Pablo J. Patiño, Juan E. Perez, Juan A. Lopez, Antonio Condino-Neto, Anete S. Grumach, Jorge H. Botero, John T. Curnutte and Diana García de Olarte

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<29::AID-HUMU3>3.0.CO;2-X

    2. Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease (pages 38–43)

      Kenichi Furihata, Anthi Drousiotou, Yoji Hara, George Christopoulos, Goula Stylianidou, Violetta Anastasiadou, Ichiro Ueno and Panos Ioannou

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<38::AID-HUMU4>3.0.CO;2-S

    3. Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update (pages 44–53)

      R. Rosipal, J. Lamoril, H. Puy, V. Da Silva, L. Gouya, F.W.M. De Rooij, K. Te Velde, Y. Nordmann, P. Martàsek and J.C. Deybach

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<44::AID-HUMU5>3.0.CO;2-Q

    4. Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases (pages 54–60)

      Jacques Poncin, Roger Abs, Brigitte Velkeniers, Maryse Bonduelle, Marc Abramowicz, Jean-Jacques Legros, Alain Verloes, Michel Meurisse, Luc Van Gaal, Christine Verellen, Lucien Koulischer and Albert Beckers

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<54::AID-HUMU6>3.0.CO;2-K

    5. Coincidence of two novel arylsulfatase a alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: Molecular basis of phenotypic heterogeneity (pages 61–68)

      Johannes Berger, Marion Gmach, Udo Mayr, Brunhilde Molzer and Hanno Bernheime

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<61::AID-HUMU7>3.0.CO;2-H

    6. Mutation analyses of North American APS-1 patients (pages 69–74)

      Maarit Heino, Hamish S. Scott, Qiaoyi Chen, Pärt Peterson, Ulla Mäenpää, Marie-Pierre Papasavvas, Laureane Mittaz, Christine Barras, Colette Rossier, George P. Chrousos, Constantine A. Stratakis, Kentaro Nagamine, Jun Kudoh, Nobuyoshi Shimizu, Noel Maclaren, Stylianos E. Antonarakis and Kai Krohn

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6

    7. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness (pages 75–81)

      Najma al-Jandal, G. Jane Farrar, Anna-Sophia Kiang, Marian M. Humphries, Noreen Bannon, John B.C. Findlay, Peter Humphries and Paul F. Kenna

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<75::AID-HUMU9>3.0.CO;2-4

  4. Erratum

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Erratum
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. You have free access to this content
      Rogan PK, Faux BM, Schneider TD. 1998. Information analysis of human splice site mutations. Hum Mutat 12:153–171. (page 82)

      Peter K. Rogan, Brian M. Faux and Thomas D. Schneider

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<82::AID-HUMU10>3.0.CO;2-E

  5. Mutations in Brief

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Erratum
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. You have free access to this content
      Erratum: Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1) (page 83)

      W.S. Oetting, J.P. Fryer and R.A. King

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU11>3.0.CO;2-8

    2. You have free access to this content
      Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu) (page 83)

      David A.R. Bessant, Shagufta Khaliq, Abdul Hameed, Khalid Anwar, Annette M. Payne, S. Qasim Mehdi and Shomi S. Bhattacharya

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU12>3.0.CO;2-5

    3. You have free access to this content
      Novel mutations in African American patients with glycogen storage disease type II (pages 83–84)

      Nina Raben, Eunice Lee, Laura Lee, Rochelle Hirschhorn and Paul H. Plotz

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU13>3.0.CO;2-2

    4. You have free access to this content
      Expansion of CTG repeat in myotonin protein kinase gene on Alu(ins)-Hinf1-1 background in a myotonic dystrophy patient from India (page 84)

      P. Basu, P.K. Gangopadhaya, S.C. Mukherjee, K.K. Sinha and N.P. Bhattacharyya

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<84::AID-HUMU14>3.0.CO;2-X

    5. You have free access to this content
      Identification of 8 new mutations in Brazilian families with Marfan syndrome (page 84)

      Ana B.A. Perez, Lygia V. Pereira, Decio Brunoni, Mayana Zatz and Maria Rita Passos-Bueno

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<84::AID-HUMU15>3.0.CO;2-U

  6. Mutation and Polymorphism Reports

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Erratum
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome (page 85)

      Sibylle Jakubiczka, Thomas Bettecken, Markus Stumm, Josef Neulen and Peter Wieacker

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<85::AID-HUMU16>3.0.CO;2-O

    2. A new L771L polymorphism in the BRCA1 gene frequently found in southern Italy (page 85)

      Francesco Baudi, Cristina Grandinetti, Barbara Quaresima, PierFrancesco Tassone, Vito Barbieri, Francesco Costanzo and Salvatore Venuta

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<85::AID-HUMU17>3.0.CO;2-L

    3. A novel missense mutation Ile59Asn in the PAX3 in family with Waardenburg syndrome type 1 (page 85)

      T.G. Markova, S.P. Shevtsov, L.N. Moskolenko, A.A. Lantsov and E.I. Schwartz

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<85::AID-HUMU18>3.0.CO;2-I

    4. A g5580 T>C variant located between the two polyadenylation sites of the interleukin-11 (IL11) gene (page 85)

      Thierry Bienvenu, Dominique Hubert, Daniel Dusser and Cherif Beldjord

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:1<85::AID-HUMU19>3.0.CO;2-F

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