A mutation that creates a pseudoexon in SOD1 causes  familial ALS.
Center of Excellence in Neuromics, Universite de Montreal, QC.
Paul N
PN
Valdmanis
Veronique V
VV
Belzil
James
J
Lee
Patrick A
PA
Dion
Judith
J
St-Onge
Pascale
P
Hince
Benoit
B
Funalot
Philippe
P
Couratier
Pierre
P
Clavelou
William
W
Camu
Guy A
GA
Rouleau
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001483:Base Sequence; D002891:Chromosomes, Human, Pair 21; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D013482:Superoxide Dismutase / Q000235:genetics*
C470429:SOD1 G37R protein, mouse; D013482:Superoxide Dismutase