色素性视网膜炎
生物
遗传学
调节器
突变
基因
GTP酶
作者
Miano Mg,Diana Valverde,Teresa Torrent Solans,Barbara Grammatico,Carmela Migliaccio,Vincenzo Cirigliano,C DeBernardo,V Ventruto,Thomas Meitinger,A.F. Wright,Del Porto G,Montserrat Baiget,Michele D’Urso,Alfredo Ciccodicola
出处
期刊:PubMed
日期:1998-01-01
卷期号:12 (3): 212-3
被引量:4
摘要
Recently a new gene called RPGR (retinitis pigmentosa GTPase regulator) was isolated in Xp21.1 and found to be mutated in patients with RP3 type X-linked retinitis pigmentosa. Two new mutations, the first a single base pair deletion and the other a two base pairs deletion, have been found in one Spanish and one Italian family.
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