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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Publicat a:Mol Genet Genomic Med
Autors principals: Gong, Bo, Yang, Lan, Wang, Qingwei, Ye, Zimeng, Guo, Xiaoxin, Yang, Chen, Hao, Fang, Shi, Yi, Huang, Yi, Qu, Chao, Yang, Zhenglin
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
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Original Articles
Accés en línia: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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