Ontology highlight
ABSTRACT:
SUBMITTER: Dong J
PROVIDER: S-EPMC3261084 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Molecular vision 20120113
<h4>Purpose</h4>Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS).<h4>Methods</h4>It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relatives were isolated and the entire coding region of FBN1 was amplified by PCR. The sequence ...[more]