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Article

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.

Human mutation - 1 Jan 1992

Dietz H C, Saraiva J M, Pyeritz R E, Cutting G R, Francomano C A

Abstract excerpt

The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue with prominent involvement of the ocular, skeletal, and cardiovascular systems. The gene on chromosome 15 encoding fibrillin (FBN1), a 350-kDa glycoprotein component of the extracellular microfibril, is the site of defect in most, if not all cases. Complementary DNA sequence reveals a gene composed largely of epidermal growth...

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Source

Identifiers

PMID: 1301946
DOI: 10.1002/humu.1380010504

Genes

FBN1
EGF

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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Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.PMID 1301946Read ↗

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An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.Semantic proximity Read ↗

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.Semantic proximity Read ↗

FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.Semantic proximity Read ↗

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.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 ↗

Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.Semantic proximity Read ↗

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A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.Semantic proximity Read ↗

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.Semantic proximity Read ↗

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