Article
[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2017
Wang Min, Chen Tianping, Jin Ling, Qu Lijun, Wang Jian, Li Yan, Cheng Jie, Xu Zhe, Wang Chengjun, Gao Shan
Abstract excerpt
OBJECTIVE: To detect potential mutation of the TCIRG1 gene in a boy with infantile malignant osteopetrosis. METHODS: Target sequence capture and next-generation sequencing were applied for the proband and his parents to identify the causative mutation, and Sanger sequencing was used to verify the suspected mutation. RESULTS: The proband manifested at 4 months of age with symptoms including anemia,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.