Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families

ConclusionsEightFBN1 mutations were identified in Chinese families with MFS and related disorder. These data expandsFBN1mutation spectrum and further emphasizes the role ofFBN1 in the pathogenesis of MFS.

Source: Molecular Genetics & Genomic Medicine - March 4, 2019 Category: Genetics & Stem Cells Authors: Bo Gong, Lan Yang, Qingwei Wang, Zimeng Ye, Xiaoxin Guo, Chen Yang, Fang Hao, Yi Shi, Yi Huang, Chao Qu, Zhenglin Yang Tags: ORIGINAL ARTICLE Source Type: research