Human Mutation

Cover image for Human Mutation

January 2004

Volume 23, Issue 1

Pages 1–101

  1. Databases

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. VSD: A database for schizophrenia candidate genes focusing on variations (pages 1–7)

      Min Zhou, Yong-Long Zhuang, Qi Xu, Yan-Da Li and Yan Shen

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.10289

  2. Rapid Communication

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) (pages 17–21)

      Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, Stefaan Scheers, Jan Wauters, Berten Ceulemans, Jenneke Van Den Ende, Yolande Van Bever and R. Frank Kooy

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.10300

  3. Research Articles

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Interaction between trypsinogen isoforms in genetically determined pancreatitis: Mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2) (pages 22–31)

      Niels Teich, Cédric Le Maréchal, Zoltán Kukor, Karel Caca, Helmut Witzigmann, Jian-Min Chen, Miklós Tóth, Joachim Mössner, Volker Keim, Claude Férec and Miklós Sahin-Tóth

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.10285

    2. Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location (pages 40–46)

      Jodi K. Maranchie, Anoushka Afonso, Paul S. Albert, Sivaram Kalyandrug, John L. Phillips, Shubo Zhou, James Peterson, Bijan M. Ghadimi, Katheen Hurley, Joseph Riss, James R. Vasselli, Thomas Ried, Berton Zbar, Peter Choyke, McClellan M. Walther, Richard D. Klausner and W. Marston Linehan

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.10302

    3. Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II (pages 47–56)

      Monique M.P. Hermans, Dik van Leenen, Marian A. Kroos, Clare E. Beesley, Ans T. Van der Ploeg, Hitoshi Sakuraba, Ron Wevers, Wim Kleijer, Helen Michelakakis, Edwin P. Kirk, Janice Fletcher, Nils Bosshard, Lina Basel-Vanagaite, Guy Besley and Arnold J.J. Reuser

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.10286

    4. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients (pages 57–66)

      Robert M.W. Hofstra, Inge M. Mulder, Rolf Vossen, Pia A. M. de Koning-Gans, Marian Kraak, Ieke B. Ginjaar, Annemarie H. van der Hout, Egbert Bakker, Charles H.C.M. Buys, Gert-Jan B. van Ommen, Anthonie J. van Essen and Johan T. den Dunnen

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.10283

    5. Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths (pages 67–76)

      Laura Eng, Gabriela Coutinho, Shareef Nahas, Gene Yeo, Robert Tanouye, Mahnoush Babaei, Thilo Dörk, Christopher Burge and Richard A. Gatti

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.10295

    6. Knobloch syndrome: Novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin (pages 77–84)

      Olivier Menzel, Reidunn C.J. Bekkeheien, Alexandre Reymond, Naomi Fukai, Eileen Boye, Gyorgy Kosztolanyi, Salim Aftimos, Samuel Deutsch, Hamish S. Scott, Bjorn R. Olsen, Stylianos E. Antonarakis and Michel Guipponi

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.10284

    7. A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency (pages 85–91)

      Marilyn M. Gordon, Nancy Brada, Angel Remacha, Isabel Badell, Elisabeth del Río, Montserrat Baiget, René Santer, Edward V. Quadros, Sheldon P. Rothenberg and David H. Alpers

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.10297

  4. Methods

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Pyrosequencing™-based SNP allele frequency estimation in DNA pools (pages 92–97)

      Catharina Lavebratt, Selim Sengul, Marten Jansson and Martin Schalling

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.10292

  5. Mutations in Brief

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. You have free access to this content
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      Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency (page 98)

      Flora Peyvandi, Liliana Tagliabue, Marzia Menegatti, Mehran Karimi, Istvan Komáromi, Éva Katona, Laszlo Muszbek and Pier Mannuccio Mannucci

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.9206

    3. You have free access to this content
      Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy (page 99)

      Andrew Biggin, Katherine Holman, Maggie Brett, Bruce Bennetts and Lesley Adès

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.9207

    4. You have free access to this content
      Large deletions in the polycystic kidney disease 1 (PKD1) gene (page 99)

      Yavuz Ariyurek, Irma Lantinga-van Leeuwen, Lia Spruit, David Ravine, Martijn H. Breuning and Dorien J.M. Peters

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.9208

    5. You have free access to this content
      Variants in TNFRSF5 locus and association analysis with Hepatitis B virus (HBV) infection (pages 99–100)

      Gangqiao Zhou, Yun Zhai, Xiaojia Dong, Ya Li, Xiumei Zhang, Ruifang Zhang, Shuqing Li, Xuhong Li, Fengying He, Handong Wei, Xiaoping Chen, Zhijian Yao, Yan Shen, Boqing Qiang and Fuchu He

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.9209

    6. You have free access to this content
      Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese population (page 100)

      Hiromi Fukushima-Uesaka, Yoshiro Saito, Hidemi Watanabe, Kisho Shiseki, Mayumi Saeki, Takahiro Nakamura, Kouichi Kurose, Kimie Sai, Kazuo Komamura, Kazuyuki Ueno, Shiro Kamakura, Masafumi Kitakaze, Sotaro Hanai, Toshiharu Nakajima, Kenji Matsumoto, Hirohisa Saito, Yu-ichi Goto, Hideo Kimura, Masaaki Katoh, Kenji Sugai, Narihiro Minami, Kuniaki Shirao, Tomohide Tamura, Noboru Yamamoto, Hironobu Minami, Atsushi Ohtsu, Teruhiko Yoshida, Nagahiro Saijo, Yutaka Kitamura, Naoyuki Kamatani, Shogo Ozawa and Jun-ichi Sawada

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.9210

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      First report of a genetic polymorphism of the cytochrome P450 3A43 (CYP3A43) gene: Identification of a loss-of-function variant (page 101)

      Christelle Cauffiez, Jean-Marc Lo-Guidice, Dany Chevalier, Delphine Allorge, Rima Hamdan, Michel Lhermitte, Jean-Jacques Lafitte, Jean-Frédéric Colombel, Christian Libersa and Franck Broly

      Version of Record online: 19 DEC 2003 | DOI: 10.1002/humu.9211

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