title: A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif.
authors.affiliation: Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Strasberg
authors.forename: H A
authors.initials: HA
authors.lastname: Liede
authors.forename: T
authors.initials: T
authors.lastname: Stein
authors.forename: I
authors.initials: I
authors.lastname: Warren
authors.forename: J
authors.initials: J
authors.lastname: Sutherland
authors.forename: P N
authors.initials: PN
authors.lastname: Ray
mesh_terms: 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
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins; D003553:Cystine