Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data.
作者信息
Tsai F J, Tsai C H, Chang J G, Wu J Y
出版信息
Am J Med Genet. 1999 Sep 17;86(3):300-1.
PMID:10482885
Abstract
摘要
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Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.导致软骨发育不全和致死性发育异常的突变对成纤维细胞生长因子受体3的分级激活。
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Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.两名具有软骨发育不全表型的患者中出现Ⅰ型致死性骨发育不全（R248C）和软骨发育低下（N540K）突变。
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Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.成纤维细胞生长因子受体3（FGFR 3）基因的常见突变导致软骨发育不全、软骨发育低下和致死性侏儒症。
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Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization.成纤维细胞生长因子受体3半胱氨酸替代突变体的差异激活由半胱氨酸定位决定。
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Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
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