X连锁视网膜色素变性（RP3型）中视网膜色素变性GTP酶调节蛋白（RPGR）基因的两个新突变。简编编号172中的突变。在线。

Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.

作者信息

Miano M G, Valverde D, Solans T, Grammatico B, Migliaccio C, Cirigliano V, DeBernardo C, Ventruto V, Meitinger T, Wright A, Del Porto G, Baiget M, D'Urso M, Ciccodicola A

机构信息

International Institute of Genetics and Biophysics, CNR, Naples, Italy.

出版信息

Hum Mutat. 1998;12(3):212-3.

PMID:10651485

Abstract

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.

摘要

最近，一个名为RPGR（视网膜色素变性GTP酶调节蛋白）的新基因在Xp21.1区域被分离出来，并且发现在患有X连锁视网膜色素变性3型（RP3）的患者中发生了突变。在一个西班牙家庭和一个意大利家庭中发现了两个新的突变，第一个是单碱基对缺失，另一个是两个碱基对缺失。