Human Mutation

Cover image for Human Mutation

February 2003

Volume 21, Issue 2

Pages 103–172

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Methods
    4. Research Articles
    5. Databases
    6. Research Articles
    7. Mutations in Brief
    1. Clinical and molecular study in congenital muscular dystrophy with partial laminin α2 (LAMA2) deficiency (pages 103–111)

      Zivana Tezak, Paola Prandini, Marco Boscaro, Alessandra Marin, Joseph Devaney, Michael Marino, Marina Fanin, Carlo P. Trevisan, Julie Park, Weslie Tyson, R. Finkel, Carlos Garcia, Corrado Angelini, Eric P. Hoffman and Elena Pegoraro

      Version of Record online: 9 JAN 2003 | DOI: 10.1002/humu.10157

  2. Methods

    1. Top of page
    2. Research Articles
    3. Methods
    4. Research Articles
    5. Databases
    6. Research Articles
    7. Mutations in Brief
    1. Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes (pages 112–115)

      Paul Emmerson, Julie Maynard, Siân Jones, Rachel Butler, Julian R. Sampson and Jeremy P. Cheadle

      Version of Record online: 9 JAN 2003 | DOI: 10.1002/humu.10159

    2. High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method (pages 116–122)

      Paal Skytt Andersen, Cathrine Jespersgaard, Jens Vuust, Michael Christiansen and Lars Allan Larsen

      Version of Record online: 14 JAN 2003 | DOI: 10.1002/humu.10161

    3. Comprehensive scanning of the ATM gene with DOVAM-S (pages 123–131)

      Carolyn H. Buzin, Richard A. Gatti, Vu Q. Nguyen, Cindy Y. Wen, Midori Mitui, Ozden Sanal, Jie Sheng Chen, Guity Nozari, April Mengos, Xuemin Li, Frank Fujimura and Steve S. Sommer

      Version of Record online: 9 JAN 2003 | DOI: 10.1002/humu.10158

  3. Research Articles

    1. Top of page
    2. Research Articles
    3. Methods
    4. Research Articles
    5. Databases
    6. Research Articles
    7. Mutations in Brief
    1. Missense mutations in the DNA-binding region and termination codon in PAX6 (pages 138–145)

      Lian-Yu Chao, Rajnikant Mishra, Louise C. Strong and Grady F. Saunders

      Version of Record online: 16 JAN 2003 | DOI: 10.1002/humu.10163

  4. Databases

    1. Top of page
    2. Research Articles
    3. Methods
    4. Research Articles
    5. Databases
    6. Research Articles
    7. Mutations in Brief
    1. You have free access to this content
      The Iranian Human Mutation Gene Bank: A data and sample resource for worldwide collaborative genetics research (pages 146–150)

      Hossein Najmabadi, Maryam Neishabury, Farhad Sahebjam, Kimia Kahrizi, Yousef Shafaghati, Nushin Nikzat, Maryam Jalalvand, Farahnaz Aminy, Susan Bany Hashemi, Babak Moghimi, Ali Reza Noorian, Ali Jannati, Mehrdad Mohammadi and Khalil Javan

      Version of Record online: 14 JAN 2003 | DOI: 10.1002/humu.10164

  5. Research Articles

    1. Top of page
    2. Research Articles
    3. Methods
    4. Research Articles
    5. Databases
    6. Research Articles
    7. Mutations in Brief
    1. Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis (pages 151–157)

      Jean-Claude Scimeca, Danielle Quincey, Hugues Parrinello, Delphine Romatet, Josiane Grosgeorge, Patrick Gaudray, Nicole Philip, Alain Fischer and Georges F. Carle

      Version of Record online: 17 JAN 2003 | DOI: 10.1002/humu.10165

    2. Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study (pages 158–168)

      Arleen D. Auerbach, Jason Greenbaum, Kanan Pujara, Sat Dev Batish, Marco A. Bitencourt, Indira Kokemohr, Hildegard Schneider, Stephan Lobitzc, Ricardo Pasquini, Philip F. Giampietro, Helmut Hanenberg and Orna Levran

      Version of Record online: 17 JAN 2003 | DOI: 10.1002/humu.10166

  6. Mutations in Brief

    1. Top of page
    2. Research Articles
    3. Methods
    4. Research Articles
    5. Databases
    6. Research Articles
    7. Mutations in Brief
    1. You have free access to this content
      Mutations in the CACNA1F and NYX genes in British CSNBX families (page 169)

      Ilaria Zito, Louise E. Allen, Reshma J. Patel, Alfons Meindl, Keith Bradshaw, John R. Yates, Alan C. Bird, Lynda Erskine, Michael E. Cheetham, Andrew R. Webster, Subathra Poopalasundaram, Anthony T. Moore, Dorothy Trump and Alison J. Hardcastle

      Version of Record online: 27 JAN 2003 | DOI: 10.1002/humu.9106

    2. You have free access to this content
      Phenotypic cellular characterization of an Ataxia telangiectasia patient carrying a causal homozygous missense mutation (pages 169–170)

      Sandra Angèle, Anthony Laugé, Marie Fernet, Norman Moullan, Pierre Beauvais, Jérôme Couturier, Dominique Stoppa-Lyonnet and Janet Hall

      Version of Record online: 27 JAN 2003 | DOI: 10.1002/humu.9107

    3. You have free access to this content
      Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene (page 170)

      C. Proukakis, M. Auer-Grumbach, K. Wagner, P.A. Wilkinson, E. Reid, M.A. Patton, T.T. Warner and A.H. Crosby

      Version of Record online: 27 JAN 2003 | DOI: 10.1002/humu.9108

    4. You have free access to this content
      Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance (pages 170–171)

      Nitin Udar, Svetlana Yelchits, Meenal Chalukya, Vivek Yellore, Steve Nusinowitz, Rosamaria Silva-Garcia, Tamara Vrabec, Irene Hussles Maumenee, Larry Donoso and Kent W. Small

      Version of Record online: 27 JAN 2003 | DOI: 10.1002/humu.9109

    5. You have free access to this content
      BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer (page 171)

      Andreas Hadjisavvas, Elpida Charalambous, Adamos Adamou, Christina G. Christodoulou and Kyriacos Kyriacou

      Version of Record online: 27 JAN 2003 | DOI: 10.1002/humu.9110

    6. You have free access to this content
      NF1 gene analysis based on DHPLC (pages 171–172)

      Alessandro De Luc, Anna Buccino, Debora Gianni, Massimo Mangino, Sandra Giustini, Antonio Richetta, Luigina Divona, Stefano Calvieri, Rita Mingarelli and Bruno Dallapiccola

      Version of Record online: 27 JAN 2003 | DOI: 10.1002/humu.9111

    7. You have free access to this content
      Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients (page 172)

      J. Boudeau, A. Kieloch, D.R. Alessi, A. Stella, G. Guanti and N. Resta

      Version of Record online: 27 JAN 2003 | DOI: 10.1002/humu.9112

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