Human Mutation

Cover image for Human Mutation

October 2001

Volume 18, Issue 4

Pages 255–360

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Short Communication
    6. Meeting Report
    7. Mutations in Brief
    1. Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency (pages 255–263)

      Luigi D. Notarangelo, Patrizia Mella, Alison Jones, Genevieve de Saint Basile, Gianfranco Savoldi, Treena Cranston, Mauno Vihinen and Richard Fabian Schumacher

      Version of Record online: 18 SEP 2001 | DOI: 10.1002/humu.1188

  2. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Short Communication
    6. Meeting Report
    7. Mutations in Brief
    1. Improved detection of CFTR mutations in Southern California Hispanic CF patients (pages 296–307)

      Lee-Jun C. Wong, Jianjun Wang, Ying-Hua Zhang, Evelyn Hsu, Ruth A. Heim, C. Michael Bowman and Marlyn S. Woo

      Version of Record online: 18 SEP 2001 | DOI: 10.1002/humu.1191

    2. Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency (pages 308–318)

      Yasuhiro Indo, Sek Mardy, Yuichi Miura, Allie Moosa, Essam A.R. Ismail, Ennio Toscano, Generoso Andria, Vito Pavone, Deborah L. Brown, Alice Brooks, Fumio Endo and Ichiro Matsuda

      Version of Record online: 18 SEP 2001 | DOI: 10.1002/humu.1192

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      Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes (pages 327–336)

      Thomas Immervoll, Sabine Loesgen, Gabriele Dütsch, Henning Gohlke, Nicole Herbon, Sabine Klugbauer, Astrid Dempfle, Heike Bickeböller, Johannes Becker-Follmann, Franz Rüschendorf, Kathrin Saar, Andre Reis, H.-Erich Wichmann and Matthias Wjst

      Version of Record online: 18 SEP 2001 | DOI: 10.1002/humu.1194

  3. Methods

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Short Communication
    6. Meeting Report
    7. Mutations in Brief
    1. You have free access to this content
      Ovarian cancer BRCA1 mutation detection: Protein truncation test (PTT) outperforms single strand conformation polymorphism analysis (SSCP) (pages 337–344)

      J.P. Geisler, M.A. Hatterman-Zogg, J.A. Rathe, T.A. Lallas, P. Kirby and R.E. Buller

      Version of Record online: 18 SEP 2001 | DOI: 10.1002/humu.1195

  4. Short Communication

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Short Communication
    6. Meeting Report
    7. Mutations in Brief
    1. Analysis of a non-functional HNF-1α (TCF1) mutation in Japanese subjects with familial type 1 diabetes (pages 345–351)

      Issei Yoshiuchi, Kazuya Yamagata, Masaaki Yoshimoto, Qian Zhu, Qin Yang, Takao Nammo, Rikako Uenaka, Ei-ichi Kinoshita, Toshiaki Hanafusa, Jun-ichiro Miyagawa and Yuji Matsuzawa

      Version of Record online: 18 SEP 2001 | DOI: 10.1002/humu.1196

  5. Meeting Report

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Short Communication
    6. Meeting Report
    7. Mutations in Brief
    1. 10th International HUGO Mutation Database Initiative Meeting, 19 April 2001, Edinburgh, Scotland (pages 352–354)

      Saeed A. Teebi, A. Jamie Cuticchia and Richard G.H. Cotton

      Version of Record online: 18 SEP 2001 | DOI: 10.1002/humu.1197

  6. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Short Communication
    6. Meeting Report
    7. Mutations in Brief
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      Eleven novel JAK3 mutations in patients with severe combined immunodeficiency—including the first patients with mutations in the kinase domain (pages 355–356)

      Patrizia Mella, Richard Fabian Schumacher, Treena Cranston, Genevieve de Saint Basile, Gianfranco Savoldi and Luigi D. Notarangelo

      Version of Record online: 18 SEP 2001 | DOI: 10.1002/humu.1199

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      Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia (page 356)

      Yue Wang, Hirokazu Kanegane, Ozden Sanal, Fügen Ersoy, Ilhan Tezcan, Takeshi Futatani, Satoshi Tsukada and Toshio Miyawaki

      Version of Record online: 18 SEP 2001 | DOI: 10.1002/humu.1200

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      Studies of the variability of the hepatocyte nuclear factor-1β (HNF-1β / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and β-cell function (pages 356–357)

      Jakob Ek, Niels Grarup, Søren A. Urhammer, Peter H. Gæde, Thomas Drivsholm, Knut Borch-Johnsen, Torben Hansen and Oluf Pedersen

      Version of Record online: 18 SEP 2001 | DOI: 10.1002/humu.1201

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      Genotype-phenotype comparison of the Swiss malignant hyperthermia population (pages 357–358)

      Thierry Girard, Albert Urwyler, Kathrin Censier, Clemens R. Mueller, Francesco Zorzato and Susan Treves

      Version of Record online: 18 SEP 2001 | DOI: 10.1002/humu.1203

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      Determination of Lewis FUT3 gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical samples (pages 358–359)

      Ammi Grahn, Anders Elmgren, Lena Åberg, Lola Svensson, Per-Anders Jansson, Peter Lönnroth and Göran Larson

      Version of Record online: 18 SEP 2001 | DOI: 10.1002/humu.1204

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      Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia (pages 359–360)

      Jaroslav A. Hubacek, Knut E. Berge, Jonathan C. Cohen and Helen H. Hobbs

      Version of Record online: 18 SEP 2001 | DOI: 10.1002/humu.1206

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