Article
Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.
International journal of molecular medicine - 1 Jun 2018
Zhang Hao, Xu Yang, Yue Hua, Wang Chun, Gu Jiemei, He Jinwei, Fu Wenzhen, Hu Weiwei, Zhang Zhenlin
Abstract excerpt
The aim of the present study was to characterize the clinical manifestations and identify the mutations of Serpin family F member 1 (SERPINF1) and FK506 binding protein 10 (FKBP10) genes in Chinese patients with osteogenesis imperfecta (OI). Using whole‑exome sequencing in the first and third probands, a novel mutation was identified in SERPINF1 and a novel compound heterozygous mutation was revealed in FKBP10....
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