Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome

PURPOSE: To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS). METHODS: Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of six individual...

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Detalles Bibliográficos
Autores principales: Meng, Bo, Li, Hongyi, Yang, Tao, Huang, Shangzhi, Sun, Xian, Yuan, Huiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185025/
https://www.ncbi.nlm.nih.gov/pubmed/21976953

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185025/
https://www.ncbi.nlm.nih.gov/pubmed/21976953

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