Article
Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients.
BMC medical genomics - 15 May 2014
Chang Lixian, Yuan Weiping, Zeng Huimin, Zhou Quanquan, Wei Wei, Zhou Jianfeng, Li Miaomiao, Wang Xiaomin, Xu Mingjiang, Yang Fengchun, Yang Yungui, Cheng Tao, Zhu Xiaofan
Abstract excerpt
BACKGROUND: Fanconi anemia (FA) is a rare inherited genetic syndrome with highly variable clinical manifestations. Fifteen genetic subtypes of FA have been identified. Traditional complementation tests for grouping studies have been used generally in FA patients and in stepwise methods to identify the FA type, which can result in incomplete genetic information from FA patients. METHODS: We diagnosed five...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.