The molecular genetics of Bardet-Biedl syndrome

被引：32

作者：

Sheffield, VC

Nishimura, D

Stone, EM

机构：

[1] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA

[2] Univ Iowa, Dept Ophthalmol, Iowa City, IA 52242 USA

[3] Univ Iowa, Howard Hughes Med Inst, Div Med Genet, Iowa City, IA 52242 USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2001年 / 11卷 / 03期

关键词：

D O I：

10.1016/S0959-437X(00)00196-9

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Bardet-Biedl syndrome (BBS) has been shown to be a genetically heterogeneous disorder involving genes mapping to at least six known loci. One BBS gene (MKKS) has been identified and the form of the disorder caused by this gene is allelic to McKusick-Kaufman syndrome. MKKS codes for a putative chaperonin, suggesting that other BBS genes may also code for components of chaperone complexes or be substrates of chaperone function.

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页码：317 / 321

页数：5

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