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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: Gong, Bo, Yang, Lan, Wang, Qingwei, Ye, Zimeng, Guo, Xiaoxin, Yang, Chen, Hao, Fang, Shi, Yi, Huang, Yi, Qu, Chao, Yang, Zhenglin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Original Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6465674/
https://ncbi.nlm.nih.gov/pubmed/30838813
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.594
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