Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.
复制标题
在 Wagner-Stickler 综合征家族中排除 COL2A1 作为候选基因。
作者：
A. Fryer;M. Upadhyaya;M. Littler;P. Bacon;D. Watkins;P. Tsipouras;P. Harper
一个大家族患有瓦格纳玻璃体视网膜变性，但没有Stickler综合征的非眼部特征，已经用II型胶原基因探针进行了研究。已观察到突变，因此排除II型胶原作为该家族中的突变位点。本报告支持其他已发表的证据，即Wagner-Stickler综合征是遗传异质性的。
A large family with Wagner's vitreoretinal degeneration but none of the non-ocular features of Stickler's syndrome has been studied with gene probes for type II collagen. Recombination has been observed, thus excluding type II collagen as the site of mutation in this family. This report supports other published evidence that the Wagner-Stickler syndrome is genetically heterogeneous.
整个人类 pro alpha 1(II) 胶原蛋白基因的分离和部分表征。
影响因子：
14.9
作者：
Sangiorgi,FO;Benson-Chanda,V;deWet,WJ;Sobel,ME;Tsipouras,P;Ramirez,F
通讯作者：
Ramirez,F