转化生长因子β1（TGFB1）中的特定结构域突变会导致卡姆拉蒂-恩格尔曼病。
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
作者信息
Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray J C, Taniguchi N, Niikawa N, Yoshiura K
机构信息
Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan.
出版信息
Nat Genet. 2000 Sep;26(1):19-20. doi: 10.1038/79128.
Camurati-Engelmann disease (CED, MIM 131300) is an autosomal dominant, progressive diaphyseal dysplasia characterized by hyperosteosis and sclerosis of the diaphyses of long bones. We recently assigned the CED locus to an interval between D19S422 and D19S606 at chromosome 19q13.1-q13.3, which two other groups confirmed. As the human transforming growth factor-1 gene (TGFB1) is located within this interval, we considered it a candidate gene for CED.
卡穆拉蒂-恩格尔曼病（CED，MIM 131300）是一种常染色体显性进行性骨干发育异常疾病，其特征为长骨干骺端骨质增生和硬化。我们最近将CED基因座定位于19号染色体19q13.1 - q13.3上D19S422和D19S606之间的一个区间，另外两个研究小组也证实了这一点。由于人类转化生长因子-1基因（TGFB1）位于该区间内，我们认为它是CED的一个候选基因。
Zotero 插件