• Issue
    2002
    575-664
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Review Article
Free Access

Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening

Joseph L. Bobadilla,  Milan Macek Jr,  Jason P. Fine,  Philip M. Farrell, 
  • Pages: 575-606
  • First Published: 03 May 2002

Databases
Full Access

The IARC TP53 database: New online mutation analysis and recommendations to users

Magali Olivier,  Ros Eeles,  Monica Hollstein,  Mohammed A. Khan,  Curtis C. Harris,  Pierre Hainaut, 
  • Pages: 607-614
  • First Published: 03 May 2002
Databases
Full Access

Arab genetic disease database (AGDDB): A population-specific clinical and mutation database

Ahmad S. Teebi,  Saeed A. Teebi,  Christopher J. Porter,  A. Jamie Cuticchia, 
  • Pages: 615-621
  • First Published: 03 May 2002

Research Article
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Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients

Sumiko Inoue,  Kayoko Inoue,  Maki Utsunomiya,  Jun-Ichi Nozaki,  Yuichiro Yamada,  Toshio Iwasa,  Eitaro Mori,  Takeo Yoshinaga,  Akio Koizumi, 
  • Pages: 622-628
  • First Published: 03 May 2002
Research Article
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Propionic acidemia: Analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli

Maja Chloupkova,  Kenneth N. Maclean,  Asem Alkhateeb,  Jan P. Kraus, 
  • Pages: 629-640
  • First Published: 03 May 2002
Research Article
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High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine β-synthase (CBS) mutations

Kenneth N. Maclean,  Mette Gaustadnes,  Jana Oliveriusová,  Miroslav Janošík,  Eva Kraus,  Viktor Kožich,  Vladimír Kery,  Flemming Skovby,  Niels Rüdiger,  Jørgen Ingerslev,  Sally P. Stabler,  Robert H. Allen,  Jan P. Kraus, 
  • Pages: 641-655
  • First Published: 03 May 2002

Methods
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Restriction endonuclease fingerprinting enhanced conformation sensitive gel electrophoresis (REF-CSGE) in the analysis of BRCA1 exon 11 mutations in a high-risk breast cancer cohort

Josef S. Herzog,  Erik M. Jancis,  Shidong Liao,  George Somlo,  Jeffrey N. Weitzel, 
  • Pages: 656-663
  • First Published: 03 May 2002

Mutation in Brief
Free Access

Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations † ‡

Nancy Gavert,  Yuval Yaron,  Tova Naiman,  Dani Bercovich,  Paul Rozen,  Ruth Shomrat,  Cyril Legum,  Avi Orr-Urtreger, 
  • Page: 664
  • First Published: 03 May 2002