Human Mutation

Cover image for Human Mutation

February 2002

Volume 19, Issue 2

Pages 85–187

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Corrigendum
    7. Mutations in Brief
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    2. Mutations and polymorphisms in the human ornithine transcarbamylase gene (pages 93–107)

      Mendel Tuchman, Naser Jaleel, Hiroki Morizono, Lisa Sheehy and Michael G. Lynch

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.10035

  2. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Corrigendum
    7. Mutations in Brief
    1. You have free access to this content
      Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms (pages 108–113)

      Zi Qiang Yuan, Bruce Gottlieb, Lenore K. Beitel, Nora Wong, Philip H. Gordon, Qing Wang, Alain Puisieux, William D. Foulkes and Mark Trifiro

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.10040

    2. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy (pages 114–121)

      Gail E. Herman, Kevin Kopacz, Wei Zhao, Patti L. Mills, Aida Metzenberg and Soma Das

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.10033

    3. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations (pages 122–130)

      Naoki Yamaguchi, Keiko Kobayashi, Tomotsugu Yasuda, Ikumi Nishi, Mikio Iijima, Masanori Nakagawa, Mitsuhiro Osame, Ikuko Kondo and Takeyori Saheki

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.10022

    4. 250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile–adult DM1 (pages 131–139)

      Dušanka Savić, Vidosava Rakočvić-Stojanović, Dušan Keckarević, Biljana Čuljković, Oliver Stojković, Jelena Mladenović, Slobodanka Todorović, Slobodan Apostolski and Stanka Romac

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.10027

    5. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan (pages 140–148)

      Miwako Dakeishi, Takanobu Shioya, Yasuhiko Wada, Tsutomu Shindo, Kousei Otaka, Motomu Manabe, Jun-Ichi Nozaki, Sumiko Inoue and Akio Koizumi

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.10026

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      Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein (pages 149–164)

      Andrew C.R. Martin, Angelo M. Facchiano, Alison L. Cuff, Tina Hernandez-Boussard, Magali Olivier, Pierre Hainaut and Janet M. Thornton

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.10032

  3. Methods

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Corrigendum
    7. Mutations in Brief
    1. A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations (pages 165–172)

      Sabine Kahmann, Peter Herter, Cornelius Kuhnen, Klaus-Michael Müller, Gert Muhr, Dirk Martin, Matthias Soddemann and Oliver Müller

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.10024

    2. A robust method for detecting CHK2/RAD53 mutations in genomic DNA (pages 173–177)

      Nayanta Sodha, Richard S. Houlston, Richard Williams, Martin A. Yuille, John Mangion and Rosalind A. Eeles

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.10031

  4. Letters to the Editor

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Corrigendum
    7. Mutations in Brief
    1. The enigma of the San Lesmes (response to Langdon, 2002) (pages 181–182)

      Geoffrey K. Chambers, Giuseppe Passarino and Peter A. Underhill

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.10038

  5. Corrigendum

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Corrigendum
    7. Mutations in Brief
    1. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness (page 183)

      S. Masmoudi, S.E. Antonarakis, T. Schwede, A.M. Ghorbel, M. Grati, M.-P. Pappasavas, M. Drira, A. Elgaied-Boulila, M. Wattenhofer, C. Rossier, H.S. Scott, H. Ayadi and M. Guipponi

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.10048

  6. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Corrigendum
    7. Mutations in Brief
    1. You have free access to this content
      BRCA1 and BRCA2 mutations in Russian familial breast cancer (page 184)

      Irina V. Tereschenko, Victoria M. Basham, Bruce A.J. Ponder and Paul D.P. Pharoah

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.9008

    2. You have free access to this content
      Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B (pages 184–185)

      Serap Emre, Mugen Terzioglu, Aysegul Tokatli, Turgay Coskun, Imran Ozalp, Birgit Weber and John J. Hopwood

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.9009

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      Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene (page 186)

      Minoru Okubo, Asako Horinishi, Dong-Ho Kim, Tokuo T. Yamamoto and Toshio Murase

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.9012

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      Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations (pages 186–187)

      Jazmin El-Hakeh, Sergio Rosenzweig, Matias Oleastro, Nora Basack, Liliana Berozdnik, Felisa Molina, Eva Maria Rivas, Marta Zelazko and Silvia Danielian

      Article first published online: 7 JAN 2002 | DOI: 10.1002/humu.9013

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