Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.
Torrente
I
I
Mangino
M
M
Gennarelli
M
M
Novelli
G
G
Giannotti
A
A
Vadalà
P
P
Dallapiccola
B
B
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