Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
复制标题
DOI：
10.1038/79128
复制
发表时间：
2000-09-01
期刊：
影响因子：
30.8
通讯作者：
Yoshiura, K
中科院分区：
文献类型：
--
作者：
Kinoshita, A;Saito, T;Yoshiura, K
Camurati-Engelmann病（CED, MIM 131300）是一种常染色体显性的进行性骨干发育不良，以长骨骨干骨质增生和硬化症为特征。我们最近将CED位点定位在染色体19q13的D19S422和D19S606之间。1-q13。3（参考文献2），另外两个小组确认为3,4。由于人转化生长因子-β1基因（TGFB1）位于这个区间5，我们认为它是CED的候选基因。
Camurati-Engelmann disease (CED, MIM 131300) is an autosomal dominant, progressive diaphyseal dysplasia characterized by hyperosteosis and sclerosis of the diaphyses of long bones 1. We recently assigned the CED locus to an interval between D19S422 and D19S606 at chromosome 19q13. 1–q13. 3 (ref. 2), which two other groups confirmed 3, 4. As the human transforming growth factor-β1 gene (TGFB1) is located within this interval 5, we considered it a candidate gene for CED.