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

Novel trinucleotide deletion in Fabry's disease.

Human genetics - 1 Apr 1996

Cariolou M A, Christodoulides M, Manoli P, Kokkofitou A, Tsambaos D

Abstract excerpt

We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene in a patient with Fabry's disease. The 3-bp deletion we identified, besides the typical severe clinical features, also expresses diffuse facial telangiectasias, which is a new cutaneous marker of Fabry's disease.

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Fabry Disease
Share to Molecular Sequence Data

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

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Sequence Deletion

Source

Identifiers

PMID: 8834244
DOI: 10.1007/BF02267068

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

Novel trinucleotide deletion in Fabry's disease.PMID 8834244Read ↗

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.Semantic proximity Read ↗

Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.Semantic proximity Read ↗

A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.Semantic proximity Read ↗

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.Semantic proximity Read ↗

A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease.Semantic proximity Read ↗

Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation.Semantic proximity Read ↗

Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.Semantic proximity Read ↗

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.Semantic proximity Read ↗

Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.Semantic proximity Read ↗

A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.Semantic proximity Read ↗

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.Semantic proximity Read ↗

Five novel mutations in fourteen patients with Fabry Disease.Semantic proximity Read ↗

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