160Thr mutation in the rhodopsin gene associated with retinitis pigmentosa.
Mutations in the rhodopsin gene were studied in 23 unrelated Spanish patients with sporadic retinitis pigmentosa (RP). A codon 160 Thr C-->A transition was found in 4 of the 23 patients vs. none of the 159 controls (p < 0.001) suggesting that this mutation may be an informative marker in RP.
Capeans
C
C
Department of Ophthalmology, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain.
Blanco
M J
MJ
Lareu
M V
MV
Salas
A
A
Piñeiro
A
A
Sánchez-Salorio
M
M
Carracedo
A
A
D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D013912:Threonine / Q000235:genetics*
D013912:Threonine; D012243:Rhodopsin