Article
[A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2006
Liang Yue-hong, Li Wen, Li Lu-yun, Ye Yi-yan, Lu Guang-xiu
Abstract excerpt
OBJECTIVE: To identify the mutation in transforming growth factor-beta1 gene (TGF beta1) in a Chinese patient with Camurati-Engelmann disease(CED). METHODS: Denaturing high-performance liquid chromatography (DHPLC) analysis was performed on the whole seven coding exons and exon-intron boundaries, then the mutation was identified by direct sequencing. RESULTS: Mutation screening of TGF beta1 in this patient...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.