Ontology highlight
ABSTRACT:
SUBMITTER: Wang F
PROVIDER: S-EPMC4341440 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Wang Fengyun F Li Bo B Lan Lan L Li Lin L
Molecular vision 20150223
<h4>Purpose</h4>To screen mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS).<h4>Methods</h4>Patients and unaffected family members were given ophthalmic, cardiovascular, and physical examinations with a 5-year follow-up. Genomic DNA was extracted from the leukocytes of venous blood from all patients and their relatives. The entire coding region of the FBN1gene was screened with an ABI 9700 GeneAmp PCR System. The mutation identified was sc ...[more]