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Article

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

American journal of human genetics - 1 Aug 2002

Schrijver Iris, Liu Wanguo, Odom Raanan, Brenn Thomas, Oefner Peter, Furthmayr Heinz, Francke Uta

Abstract excerpt

Marfan syndrome (MFS) and other type 1 fibrillinopathies result from mutations in the FBN1 gene, which encodes the connective-tissue microfibrillar protein fibrillin 1. Attempts at correlating genotype with phenotype have suggested considerable heterogeneity. To define the subtype of fibrillinopathy caused by premature termination codon (PTC) mutations, we integrate genotype information and mRNA expression levels...

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Identifiers

PMID: 12068374
DOI: 10.1086/341581
PMCID: PMC379156

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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