Skeletal disorders associated with fibroblast growth factor receptor mutations

被引：62

作者：

DeMoerlooze, L

Dickson, C

机构：

[1] Imperial Cancer Research Fund, London WC2A 3PX

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 1997年 / 7卷 / 03期

关键词：

D O I：

10.1016/S0959-437X(97)80152-9

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Mutations in three fibroblast growth factor receptor loci underlie several autosomal dominant skeletal disorders; these include dwarfism and various craniosynostosis syndromes affecting limb and craniofacial bone patterning. A functional analysis of several of these mutations has demonstrated that a constitutive activation of the receptor kinase is a common theme.

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页码：378 / 385

页数：8

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