Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that canonically affects the ocular, skeletal, and cardiovascular system, in which aortic tear and rupture is the leading cause of death for MFS patients. Genetically, MFS is primarily associated with fibrillin-1 (FBN1) pathog...

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Detalles Bibliográficos
Autores principales: Hu, Kui, Wan, Yun, Lee, Fu-Tsuen, Chen, Jinmiao, Wang, Hao, Qu, Haonan, Chen, Tao, Lu, Wang, Jiang, Zhenwei, Gao, Lufang, Ji, Xiaojuan, Sun, Liqun, Xiang, Daokang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9081721/
https://www.ncbi.nlm.nih.gov/pubmed/35547258
http://dx.doi.org/10.3389/fgene.2022.857095

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9081721/
https://www.ncbi.nlm.nih.gov/pubmed/35547258
http://dx.doi.org/10.3389/fgene.2022.857095

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