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Article

Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome.

American journal of human genetics - 1 Sept 1994

Hewett D, Lynch J, Child A, Firth H, Sykes B

Abstract excerpt

Marfan syndrome is a connective-tissue disorder affecting cardiovascular, skeletal, and ocular systems. The major Marfan locus has been identified as the FBN1 gene on chromosome 15; this codes for the extracellular-matrix protein fibrillin, a 350-kD constituent of the 8-10-nm elastin-associated microfibrils. We identified five MFS patients who were heterozygous for an RsaI restriction-site dimorphism in the 3'...

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Source

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Identifiers

PMID: 7915876
PMCID: PMC1918385

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.

Related research

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Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome.PMID 7915876Read ↗

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.Semantic proximity Read ↗

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.Semantic proximity Read ↗

Multi-exon deletions of the FBN1gene in Marfan syndromeSemantic proximity Read ↗

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.Semantic proximity Read ↗

An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.Semantic proximity Read ↗

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?Semantic proximity Read ↗

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.Semantic proximity Read ↗

A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.Semantic proximity Read ↗

Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.Semantic proximity Read ↗

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.Semantic proximity Read ↗

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.Semantic proximity Read ↗

Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.Semantic proximity Read ↗

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