Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Development: Disorders
Romeo Carrozzo, Edoardo Boncinelli
Published online: January 2006
Spontaneous Function Correction of Pathogenic Alleles in Inherited Diseases Resulting in Somatic Mosaicism
Quinten Waisfisz, Hans Joenje
Published online: January 2006
Position Effect Variegation in Human Genetic Disease
Timothy J Parnell, Stephanie K Grade, Pamela K Geyer, Lori L Wallrath
Published online: January 2006
Allelic and Locus Heterogeneity
Charles R Scriver
Published online: January 2006
Posttranslational Modification and Human Disorders
G Brian Wisdom
Published online: January 2006
Disease Associations: Human Leukocyte Antigen (HLA) and Apolipoprotein E (APOE) Gene
Cornelia M van Duijn
Published online: January 2006
Aging: Genetics
Bastiaan Johannes Zwaan
Published online: January 2006
Proteins: Mutational Effects in
Arthur M Lesk
Published online: January 2006
Genotype–Phenotype Relationships: Fatal Familial Insomnia and Creutzfeldt–Jakob Disease
Lev G Goldfarb
Published online: January 2006
Craniofacial Abnormalities: Molecular Basis
Ulrich Müller
Published online: January 2006
Medical Genetics: History
Friedrich Vogel
Published online: January 2006
G‐protein‐mediated Signal Transduction and Human Disorders
Allen M Spiegel
Published online: January 2006
Activating and Inactivating Mutations in the GNAS1 Gene
Micheala A Aldred, Richard C Trembath
Published online: January 2006
Potassium Channels
William A Coetzee, Bernardo Rudy
Published online: January 2006
Growth Disorders: Hereditary
John A Phillips
Published online: January 2006
Mutation Rate: Sex Biases
Laurence D Hurst
Published online: January 2006
Bladder Cancer
Torben F Orntoft
Published online: January 2006
Melanoma: Genetics
Pamela M Pollock
Published online: January 2006
Autoimmune Disease: Genetics
Pere Santamaria, Yang Yang
Published online: September 2005
Short Interspersed Elements (SINEs)
Carl W Schmid, Carol M Rubin
Published online: September 2005
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