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Article

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

Human heredity - 1 Jun 1999

Kilpatrick M W, Lembessis P, Rose E, Tsipouras P

Abstract excerpt

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Topics

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Share to Amino Acid Substitution
Share to DNA
Share to DNA Mutational Analysis
Share to Fibrillin-1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10364683
DOI: 10.1159/000022867

Genes

FBN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.PMID 10364683Read ↗

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

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

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

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

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.Semantic proximity Read ↗

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

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

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

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

[Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome].Semantic proximity Read ↗

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

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.Semantic proximity Read ↗

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