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Article

Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.

Journal of human genetics - 1 Jan 2004

Uyeda Tomomi, Takahashi Toru, Eto Shuji, Sato Takumi, Xu Gang, Kanezaki Rika, Toki Tsutomu, Yonesaka Susumu, Ito Etsuro

Abstract excerpt

Marfan syndrome (MFS) is an autosomal dominant disorder of the extracellular matrix. Allelic variations in the gene for fibrillin-1 ( FBN1) have been shown to cause MFS. To date, over 550 mutations have been identified in patients with MFS and related connective tissue diseases. However, about a half of MFS cases do not possess mutations in the FBN1 gene. These findings raise the possibility that variants located...

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Source

Identifiers

PMID: 15221638
DOI: 10.1007/s10038-004-0168-x

Genes

FBN1
FBN3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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