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

Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene.

European journal of biochemistry - 15 Aug 1998

Gibson M A, Ellis S L, Ades L C, Haan E, Cleary E G

Abstract excerpt

A heterozygous deletion of a single base (A4704) from exon 37 of the fibrillin-1 gene was defined in a patient with Marfan syndrome and subsequently in his previously undiagnosed father. The deletion created a cryptic 5' splice site in exon 37 which was utilised in preference to the normal 5' splice site during pre-mRNA processing in skin fibroblasts cultured from the proband. The mutant mRNA showed a 48-bp...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Share to RNA, Messenger

Share to Sequence Deletion

Source

Identifiers

PMID: 9746367
DOI: 10.1046/j.1432-1327.1998.2560221.x

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene.PMID 9746367Read ↗

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.Semantic proximity Read ↗

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.Semantic proximity Read ↗

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.Semantic proximity Read ↗

A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.Semantic proximity Read ↗

Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.Semantic proximity Read ↗

Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.Semantic proximity Read ↗

An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.Semantic proximity Read ↗

Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly.Semantic proximity Read ↗

Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology.Semantic proximity Read ↗

Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome.Semantic proximity Read ↗

Characterisation of fibrillin-1 cDNA clones in a human fibroblast cell line that assembles microfibrils.Semantic proximity Read ↗

Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.Semantic proximity Read ↗

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