Ontology highlight
ABSTRACT:
SUBMITTER: Ouyang PB
PROVIDER: S-EPMC6520272 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
International journal of ophthalmology 20190518 5
<h4>Aim</h4>To report a novel mutation in <i>FBN1</i> gene in a Chinese consanguineous family with common Marfan syndrome (MFS) phenotype and an unusual bilateral macular degeneration.<h4>Methods</h4>Ophthalmic, cardiovascular and systemic examinations were performed, and genomic DNA extracted from all living family members. The 24-32 exon mutations of <i>FBN1</i> gene were screened by Sanger Sequencing in all family members and 100 unrelated healthy Chinese individuals.<h4>Results</h4>In the fo ...[more]