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Article

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

Genomics - 1 Aug 1993

Dietz H C, McIntosh I, Sakai L Y, Corson G M, Chalberg S C, Pyeritz R E, Francomano C A

Abstract excerpt

Defects of fibrillin (FBN1), a glycoprotein component of the extracellular microfibril, cause Marfan syndrome. This disorder is characterized by marked inter- and intrafamilial variation in phenotypic severity. To understand the molecular basis for this clinical observation, we have screened the fibrillin gene (FBN1) on chromosome 15, including the newly cloned 5' coding sequence, for disease-producing...

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Identifiers

PMID: 8406497
DOI: 10.1006/geno.1993.1349

Genes

EGF
FBN1

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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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Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.PMID 8406497Read ↗

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Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndromeSemantic proximity Read ↗

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

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

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.Semantic proximity Read ↗

The molecular genetics of Marfan syndrome and related microfibrillopathies.Semantic proximity Read ↗

Fibrillln mutations in Marfan syndrome and related phenotypes.Semantic proximity Read ↗

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