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C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family

PURPOSE: To screen mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS). METHODS: Patients and unaffected family members were given ophthalmic, cardiovascular, and physical examinations with a 5-year follow-up. Genomic DNA was extracted from the...

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Pubblicato in:Mol Vis
Autori principali: Wang, Fengyun, Li, Bo, Lan, Lan, Li, Lin
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4341440/
https://ncbi.nlm.nih.gov/pubmed/25729264
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