A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.
Fuchs
S
S
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
Xu
S Y
SY
Caballero
M
M
Salcedo
M
M
La O
A
A
Wedemann
H
H
Gal
A
A
D000595:Amino Acid Sequence; D001483:Base Sequence; D001766:Blindness / Q000453:epidemiology / Q000235:genetics*; D003462:Cuba / Q000453:epidemiology; D003638:Deafness / Q000453:epidemiology / Q000235:genetics; D005091:Exons; D005124:Eye Abnormalities / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013577:Syndrome; D014960:X Chromosome