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Article

Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.

Human mutation - 1 Jan 1998

Black C, Withers A P, Gray J R, Bridges A B, Craig A, Baty D U, Boxer M

Abstract excerpt

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9452085
DOI: 10.1002/humu.1380110164

Genes

FBN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

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Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.PMID 9452085Read ↗

Marfan syndrome with a homozygous FBN1 splicing mutation.Semantic proximity Read ↗

Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case presentation.Semantic proximity Read ↗

Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.Semantic proximity Read ↗

Phenotypic variability in Marfan syndrome in a family with a novel nonsense FBN1 gene mutation.Semantic proximity Read ↗

Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg.Semantic proximity Read ↗

Gene symbol: FBN1. Disease: Marfan syndrome.Semantic proximity Read ↗

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.Semantic proximity Read ↗

Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation.Semantic proximity Read ↗

A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.Semantic proximity Read ↗

A novel FBN1 mutation in Marfan's syndrome with giant aortic root aneurysm.Semantic proximity Read ↗

Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevanceSemantic proximity Read ↗

Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance.Semantic proximity Read ↗

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