Article
Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.
Human mutation - 1 Sept 2001
Comeglio P, Evans A L, Brice G W, Child A H
Abstract excerpt
Marfan syndrome (MFS), an autosomal dominant disorder of the extracellular matrix, is due to mutations in fibrillin-1 (FBN1) gene. Investigations carried out in the last decade, unveiled the unpredictability of the site of the mutation, which could be anywhere in the gene. FBN1 mutations have been reported in a spectrum of diseases related to MFS, with no clear evidence for a phenotype-genotype correlation. In...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.