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Article

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

Molecular vision - 1 Jan 2011

Meng Bo, Li Hongyi, Yang Tao, Huang Shangzhi, Sun Xian, Yuan Huiping

Abstract excerpt

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 individuals in the family and 170 healthy Chinese individuals. All of the 65 coding exons and their flanking intronic...

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Identifiers

PMID: 21976953
PMCID: PMC3185025

Genes

FBN1

Variants

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