The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease

Human Mutation

Volumn 30, Issue 3, 2009, Pages

  Valdmanis, Paul N ^a,b,c   Verlaan, Dominique J ^a,b,c   Rouleau, Guy A ^a,b  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

Bioinformatics; Gain of function genes; Missense mutation prediction programs; SOD1

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

ALZHEIMER DISEASE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BIOINFORMATICS; COMPUTER PROGRAM; DEGENERATIVE DISEASE; ENZYME ACTIVITY; GENE ACTIVITY; GENE FUNCTION; GENE LOSS; GENE MUTATION; HUMAN GENOME; MISSENSE MUTATION; MOLECULAR MECHANICS; PARKINSON DISEASE; PRIORITY JOURNAL; PROBABILITY; SOD1 GENE; SPASTIC PARAPLEGIA; SPINAL MUSCULAR ATROPHY; WILD TYPE;

EID: 61649101716     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20939     Document Type: Article

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