Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Antitrypsin (AAT) Deficiency‐α1
Diane W Cox
Published online: January 2006
Familial Adenomatous Polyposis
Ian M Frayling
Published online: January 2006
Infectious Diseases: Predisposition
David Burgner, Michael Levin
Published online: January 2006
3′ UTR Mutations and Human Disorders
Béatrice Conne, André Stutz, Jean‐Dominique Vassalli
Published online: January 2006
Nonsense‐mediated mRNA Decay
Joshua T Mendell, Harry C Dietz
Published online: January 2006
Ethnicity and Disease
Leena Peltonen
Published online: January 2006
Mutations: Penetrance
Richard Houlston
Published online: January 2006
Transcription‐coupled DNA Repair
Isabel Mellon
Published online: January 2006
Hemochromatosis
Ernest Beutler
Published online: January 2006
Trinucleotide Repeat Expansions: Disorders
David Nelson, Huda Zoghbi
Published online: January 2006
Gene Amplification and Cancer
Kazuhiko Uchida
Published online: January 2006
Testicular Cancer
RSK Chaganti
Published online: January 2006
Venous Thrombosis: Genetics
Pieter H Reitsma
Published online: January 2006
Microdeletions and Microduplications: Mechanism
Bernice E Morrow
Published online: January 2006
Clinical Molecular Cytogenetics
Serge P Romana, Michel Vekemans
Published online: January 2006
Mosaicism
Judith G Hall
Published online: January 2006
Path Analysis in Genetic Epidemiology
DC Rao, Treva Rice
Published online: January 2006
Barrett Esophagus
Carlo C Maley, Brian J Reid
Published online: January 2006
Development: Disorders
Romeo Carrozzo, Edoardo Boncinelli
Published online: January 2006
Craniofacial Abnormalities: Molecular Basis
Ulrich Müller
Published online: January 2006
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