160Thr mutation in the rhodopsin gene associated with retinitis pigmentosa

被引：2
作者：
Capeans, C
Blanco, MJ
Lareu, MV
Salas, A
Piñeiro, A
Sánchez-Salorio, M
Carracedo, A
机构：
[1] Univ Santiago, Fac Med, Dept Genet Forense, Inst Med Legal, E-15705 Santiago De Compostela, Spain
[2] Univ Santiago, Complejo Hosp, Dept Ophthalmol, E-15705 Santiago De Compostela, Spain
[3] Hosp Gen Galicia, Galician Inst Ophthalmol, Santiago De Compostela, Spain
来源：
HUMAN HEREDITY | 1998年 / 48卷 / 05期
关键词：
rhodopsin gene; retinitis pigmentosa;
D O I：
10.1159/000022809
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页码：237 / 240
页数：4
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