Skeletal disorders associated with fibroblast growth factor receptor mutations
Skeletal disorders associated with fibroblast growth factor receptor mutations
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DOI：
10.1016/s0959-437x(97)80152-9
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发表时间：
1997-06-01
影响因子：
4
通讯作者：
Dickson, C
中科院分区：
文献类型：
--
作者：
DeMoerlooze, L;Dickson, C
三个成纤维细胞生长因子受体位点的突变是几种常染色体显性骨骼疾病的基础；这些包括侏儒症和各种影响肢体和颅面骨模式的颅缝闭锁综合征。对其中几种突变的功能分析表明，受体激酶的组成性激活是一个共同的主题。
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.