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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Gong, Bo, Yang, Lan, Wang, Qingwei, Ye, Zimeng, Guo, Xiaoxin, Yang, Chen, Hao, Fang, Shi, Yi, Huang, Yi, Qu, Chao, Yang, Zhenglin
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha: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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