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

Valdmanis, Paul N

The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease. [electronic resource] - Human mutation Mar 2009 - E481-9 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.20939 doi


Adenosine Triphosphatases--genetics
Amino Acid Substitution
Amyloid beta-Protein Precursor--genetics
Computational Biology--methods
GTP Phosphohydrolases--genetics
GTP-Binding Proteins
Genetic Predisposition to Disease--genetics
Humans
Membrane Proteins
Mutation
Neurodegenerative Diseases--genetics
Presenilin-1--genetics
Software
Spastin
Superoxide Dismutase--genetics
Superoxide Dismutase-1
Survival of Motor Neuron 1 Protein--genetics
Ubiquitin-Protein Ligases--genetics
tau Proteins--genetics