Article
Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.
Human mutation - 1 Jan 2001
Matsukawa R, Iida K, Nakayama M, Mukai T, Okita Y, Ando M, Takamoto S, Nakajima N, Morisaki H, Morisaki T
Abstract excerpt
Marfan syndrome (MFS), an autosomal dominant connective tissue disorder, is caused by mutations in the gene encoding fibrillin 1 (FBN1). The clinical spectrum and severity of MFS disorder varies greatly both between and within families. Since there have been only a few reports on the relationship between FBN1 genotypes and clinical phenotypes in Japanese patients, the FBN1 gene was analyzed in 27 Japanese...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.