A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif.
Strasberg
P
P
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Liede
H A
HA
Stein
T
T
Warren
I
I
Sutherland
J
J
Ray
P N
PN
D001766:Blindness / Q000235:genetics*; D003553:Cystine; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D014960:X Chromosome
D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins; D003553:Cystine