Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype–phenotype correlations in the Chinese population

Marfan syndrome (MFS) is a dominant monogenic disease caused by mutations in fibrillin 1 (FBN1). Cardiovascular complications are the leading causes of mortality among MFS. In the present study, a whole-exome sequencing of MFS in the Chinese population was conducted to investigate the correlation be...

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Detalles Bibliográficos
Autores principales: Wu, Yuduo, Sun, Hairui, Wang, Jianbin, Wang, Xin, Gong, Ming, Han, Lu, He, Yihua, Zhang, Hongjia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2020
Materias:
Cardiovascular System & Vascular Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7724612/
https://www.ncbi.nlm.nih.gov/pubmed/33200202
http://dx.doi.org/10.1042/BSR20203356

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7724612/
https://www.ncbi.nlm.nih.gov/pubmed/33200202
http://dx.doi.org/10.1042/BSR20203356

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