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Article

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.

Human mutation - 1 Jan 2004

Biggin Andrew, Holman Katherine, Brett Maggie, Bennetts Bruce, Adès Lesley

Abstract excerpt

Marfan syndrome (MFS) is a disorder of the extracellular matrix caused by mutations in the gene encoding fibrillin-1 (FBN1). Recent studies have illustrated the variability in disease severity and clinical manifestations of MFS. Useful genotype-phenotype correlations have been slow to emerge. We screened 57 unrelated patients with MFS or a Marfan-like phenotype using a combination of SSCP and/or DHPLC. We...

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Source

Identifiers

PMID: 14695540
DOI: 10.1002/humu.9207

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.PMID 14695540Read ↗

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