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

BACKGROUND: Previous studies showed that the fibrillin‐1 gene (FBN1) is responsible for Marfan sydrome (MFS) pathogenesis. This study is conducted to screen for mutations in the FBN1 gene in Chinese families with MFS. METHODS: Eight families with MFS and related disorder were recruited in this study...

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Detalles Bibliográficos
Autores principales: Gong, Bo, Yang, Lan, Wang, Qingwei, Ye, Zimeng, Guo, Xiaoxin, Yang, Chen, Hao, Fang, Shi, Yi, Huang, Yi, Qu, Chao, Yang, Zhenglin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465674/
https://www.ncbi.nlm.nih.gov/pubmed/30838813
http://dx.doi.org/10.1002/mgg3.594

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