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Article

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

Nucleic acids research - 1 Jan 1997

Collod-Béroud G, Béroud C, Adès L, Black C, Boxer M, Brock D J, Godfrey M, Hayward C, Karttunen L, Milewicz D, Peltonen L, Richards R I, Wang M, Junien C, Boileau C

Abstract excerpt

Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Marfan syndrome (MFS). More recently, FBN1 has also been shown to harbor mutations related to a spectrum of...

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Identifiers

PMID: 9016526
DOI: 10.1093/nar/25.1.147
PMCID: PMC146361

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9016526-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.PMID 9016526Read ↗

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Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.Semantic proximity Read ↗

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.Semantic proximity Read ↗

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