Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

1 Aug 1997

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood Coagulation and Thrombosis Mechanisms
Share to Cardiac Valve Diseases and Treatments
Share to Connective tissue disorders research

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9241263
DOI: 10.1038/ng0897-328

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndromePMID 9241263Read ↗

A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl.Semantic proximity Read ↗

Large Family With Marfan Syndrome Demonstrating the Pathogenicity of a "Synonymous" Variant (p.Ile2118=) in the Fibrillin-1 Gene.Semantic proximity Read ↗

AnFBN1Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?Semantic proximity Read ↗

Recent progress in genetics of Marfan syndrome and Marfan-associated disordersSemantic 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 ↗

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

A synonymous mutation in exon 39 of FBN1 causes exon skipping leading to Marfan syndrome.Semantic proximity Read ↗

Molecular pathogenesis of Marfan syndromeSemantic proximity Read ↗

A novel splicing mutation in Marfan syndrome.Semantic proximity Read ↗

FBN1 exon 2 splicing error in a patient with Marfan syndrome.Semantic proximity Read ↗

Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.