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Human Mutation

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Special Issue: SNP 2000: Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis

April 2001

Volume 17, Issue 4

Pages 241–356

Issue edited by: Anthony J. Brookes, Pui-Yan Kwok, Peter J. Oefner, P. Scott White

  1. Editorial

    1. Top of page
    2. Editorial
    3. Databases
    4. Research Articles
    5. Methods
    6. Abstracts
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
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  2. Databases

    1. Top of page
    2. Editorial
    3. Databases
    4. Research Articles
    5. Methods
    6. Abstracts
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. You have free access to this content
      A semi-automated system for analysis and storage of SNPs (pages 243–254)

      Valerie Lehnert, James Holzwarth, Michael Ott, Annick Thompson, Sabine Demmak and Dorothee Foernzler

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.20

  3. Research Articles

    1. Top of page
    2. Editorial
    3. Databases
    4. Research Articles
    5. Methods
    6. Abstracts
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
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      Allelic association with SNPs: Metrics, populations, and the linkage disequilibrium map (pages 255–262)

      A. Collins, S. Ennis, P. Taillon-Miller, P-Y. Kwok and N.E. Morton

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.21

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      SNPs, protein structure, and disease (pages 263–270)

      Zhen Wang and John Moult

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.22

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      Maori origins, Y-chromosome haplotypes and implications for human history in the Pacific (pages 271–280)

      Peter A. Underhill, Giuseppe Passarino, Alice A. Lin, Sangkot Marzuki, Peter J. Oefner, L. Luca Cavalli-Sforza and Geoffrey K. Chambers

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.23

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      Characterization of publicly available SNPs in the Korean population (pages 281–284)

      Seong-Gene Lee, Sunghee Hong, Yongsook Yoon, Insil Yang and Kyuyoung Song

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.24

  4. Methods

    1. Top of page
    2. Editorial
    3. Databases
    4. Research Articles
    5. Methods
    6. Abstracts
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
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      Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identification (pages 305–316)

      Fei Ye, May-Sung Li, J. David Taylor, Quan Nguyen, Heidi M. Colton, Warren M. Casey, Michael Wagner, Michael P. Weiner and Jingwen Chen

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.28

  5. Abstracts

    1. Top of page
    2. Editorial
    3. Databases
    4. Research Articles
    5. Methods
    6. Abstracts
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. You have free access to this content
    2. You have free access to this content
  6. Mutations in Brief

    1. Top of page
    2. Editorial
    3. Databases
    4. Research Articles
    5. Methods
    6. Abstracts
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. You have free access to this content
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      Identification of novel WFS1 mutations in Italian children with Wolfram syndrome (pages 348–349)

      A. Tessa, I. Carbone, M.C. Matteoli, C. Bruno, C. Patrono, I.P. Patera, F. De Luca, R. Lorini and F.M. Santorelli

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.32

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      The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia (page 349)

      Kati Pääkkönen, Stefano Cambiaghi, Giuseppe Novelli, Lizbeth V. Ouzts, Maila Penttinen, Juha Kere and Anand K. Srivastava

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.33

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      Human GABAB receptor 1 gene: Eight novel sequence variants (pages 349–350)

      Fuki M. Hisama, Jeffrey R. Gruen, Jenny Choi, Masha Huseinovic, Elena L. Grigorenko, David Pauls, Richard H. Mattson, Joel Gelernter, Frank B. Wood and Vita L. Goei

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.34

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      Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT) (page 350)

      M.D. Cappellini, F. Martinez di Montemuros, D. Tavazzi, S. Fargion, A. Pizzuti, A. Comino, T. Cainelli and G. Fiorelli

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.35

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      Haplotyping of wild type and I278T alleles of the human cystathionine β-synthase gene based on a cluster of novel SNPs in IVS12 (pages 350–351)

      Michael Linnebank, Anja Homberger, Jan Peter Kraus, Erik Harms, Viktor Kozich and Hans Georg Koch

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.36

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      Mutation analysis of the tyrosinase gene in oculocutaneous albinism (page 352)

      Olivier Camand, Dominique Marchant, Sandrine Boutboul, Marie Péquignot, Sylvie Odent, Hélène Dollfus, Joanne Sutherland, Alex Levin, Maurice Menasche, Cécile Marsac, Jean-Louis Dufier, Elise Heon and Marc Abitbol

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.38

  7. Mutation and Polymorphism Reports

    1. Top of page
    2. Editorial
    3. Databases
    4. Research Articles
    5. Methods
    6. Abstracts
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
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      Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene (page 353)

      Irene Marcos, Agustín Ruiz, Salud Borrego and Guillermo Antiñolo

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.39

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      Identification of a novel de novo mutation (G373D) in the α-galactosidase A gene (GLA) in a patient affected with Fabry disease (page 353)

      Dominique P. Germain, Dominique Salard, Florence Fellmann, Kemal Azibi, Catherine Caillaud, Marie-Charlotte Bernard and Livia Poenaru

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.41

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      A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years (page 354)

      Rémy Demeester, Jasmine Parma, Pascale Cochaux, Gilbert Vassart and Marc J. Abramowicz

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.42

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      Identification of a polymorphism (D168N) in the XRP2 gene in Chinese (page 354)

      Wei-De Lin, Yi-Ru Shi, Fuu-Jen Tsai, Cheng-Chun Lee, Hui-Ju Lin and Jer-Yuarn Wu

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.43

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      Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X (page 354)

      Janine Genschel, Hans-Peter Thomas, Ursula Kassner, Herbert Lochs, Elisabeth Steinhagen-Thiessen and Hartmut H-J. Schmidt

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.44

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      A novel b(1-4)galactosyltransferase gene silent mutation (594C>T) associated with Hutchinson-Gilford progeria (page 355)

      M.E. O’Brien and A.S. Weiss

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.47

      Corrected by:

      Focus Articles: Genetic algorithms for clustering and fuzzy clustering

      Vol. 2, Issue 3, 285, Version of Record online: 23 MAR 2012

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      Detection of known and two novel (M331I and R464S) missense mutations in the human CYP1A1 gene in a French Caucasian population (page 355)

      D. Chevalier, D. Allorge, J.M. Lo-Guidice, C. Cauffiez, M. Lhermitte, J.J. Lafitte and F. Broly

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.48

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      A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene (page 356)

      D. Feldmann, F. Laroze, C. Troadec, A. Clement, G. Tournier and R. Couderc

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.50

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      A new polymorphism (c28C>A) of EXT2 gene identified in a Taiwan Chinese family (page 356)

      Yi-Ru Shi, Jer-Yuarn Wu, Fuu-Jen Tsai, Cheng-Chun Lee and Chang-Hai Tsai

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.51

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