Article
A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.
Genetics and molecular research : GMR - 27 Apr 2015
Yin Y, Liu X-H, Li X-H, Fan N, Lei D-F, Wang Y, Cai S-P, Zhou X-M, Chen X-M, Liu X-Y
Abstract excerpt
The purpose of this study was to identify the clinical features and mutations in the fibrillin-1 gene (FBN1) in a large Chinese family with autosomal dominant Marfan syndrome (MFS). Seventeen members from a Chinese family of 4 generations were included in the study. All members underwent complete ophthalmic examination. Molecular genetic analysis was performed on all subjects. All exons of FBN1 were amplified by...
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