Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome

Marfan syndrome (MFS) is an autosomal dominant heterogeneous disorder of connective tissue characterized by the early development of thoracic aneurysms/dissections, together with defects of the ocular and skeletal systems. Loss-of-function mutations in fibrillin-1 (FBN1) encoded by the gene, FBN1 (M...

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Detalles Bibliográficos
Autores principales: MA, MINGJIA, LI, ZONGZHE, WANG, DAO WEN, WEI, XIANG
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918605/
https://www.ncbi.nlm.nih.gov/pubmed/27175573
http://dx.doi.org/10.3892/mmr.2016.5229

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918605/
https://www.ncbi.nlm.nih.gov/pubmed/27175573
http://dx.doi.org/10.3892/mmr.2016.5229

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