EXCLUSION OF COL2A1 AS A CANDIDATE GENE IN A FAMILY WITH WAGNER-STICKLER SYNDROME

被引：39

作者：

FRYER, AE

UPADHYAYA, M

LITTLER, M

BACON, P

WATKINS, D

TSIPOURAS, P

HARPER, PS

机构：

[1] UNIV HOSP WALES,DEPT OPHTHALMOL,CARDIFF CF4 4XW,S GLAM,WALES

[2] UNIV CONNECTICUT,CTR HLTH,DEPT PEDIAT,FARMINGTON,CT 06032

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 02期

关键词：

D O I：

10.1136/jmg.27.2.91

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：91 / 93

页数：3

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