title: Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.
authors.forename: I
authors.initials: I
authors.lastname: Torrente
authors.forename: M
authors.initials: M
authors.lastname: Mangino
authors.forename: M
authors.initials: M
authors.lastname: Gennarelli
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: A
authors.initials: A
authors.lastname: Giannotti
authors.forename: P
authors.initials: P
authors.lastname: Vadalà
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007558:Italy; D008297:Male; D017354:Point Mutation; D014960:X Chromosome