TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.
作者信息
Kinoshita Akira, Fukumaki Yasuyuki, Shirahama Shuya, Miyahara Akira, Nishimura Gen, Haga Nobuhiko, Namba Atsushi, Ueda Hitoshi, Hayashi Hiromi, Ikegawa Shiro, Seidel Joerg, Niikawa Norio, Yoshiura Koh-Ichiro
机构信息
Division of Disease Genes, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.
出版信息
Am J Med Genet A. 2004 May 15;127A(1):104-107. doi: 10.1002/ajmg.a.20671.
PMID:15103729
Abstract
摘要
Zotero 插件