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

Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

Human genetics - 1 Apr 1992

Ishii S, Sakuraba H, Suzuki Y

Abstract excerpt

Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case. They both expressed markedly low, but significant, amounts of residual activity in COS-1 cells. In contrast, two unrelated cases with classic...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Base Sequence
Share to Blotting, Southern

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

Share to Genetic Variation

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 1315715
DOI: 10.1007/BF00207037

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

Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.PMID 1315715Read ↗

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with 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 ↗

Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease.Semantic proximity Read ↗

A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.Semantic proximity Read ↗

Analysis of splice-site mutations of the alpha-galactosidase A gene 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 ↗

Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry diseaseSemantic proximity Read ↗

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

A mutant mRNA expression in an endomyocardial biopsy sample obtained from a patient with a cardiac variant of Fabry disease caused by a novel acceptor splice site mutation in the invariant AG of intron 5 of the α-galactosidase A gene.Semantic proximity Read ↗

Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of 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 ↗

The functional role of glutamine-280 and threonine-282 in human alpha-galactosidase.Semantic proximity Read ↗

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