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

A 3' splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease.

Jinrui idengaku zasshi. The Japanese journal of human genetics - 1 Sept 1991

Yokoi T, Shinoda K, Ohno I, Kato K, Miyawaki T, Taniguchi N

Abstract excerpt

Fabry disease is an X-linked disorder accompanied with accumulation of glycosphingolipids resulting from the deficient activity of the lysosomal hydrolase, alpha-galactosidase A (alpha-GalA). In the present study, mRNA for alpha-GalA in fibroblasts from an 11-year-old Japanese patient with Fabry disease was examined using the reverse transcriptase-polymerase chain reaction (PCR). The shorter message of alpha-GalA...

Topics

Child
Chromosome Deletion
Chromosome Mapping
Consensus Sequence
Exons
Fabry Disease
Galactosidases
Genes
Humans
Introns
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

RNA Splicing

RNA, Messenger

Source

Identifiers

PMID: 1753437
DOI: 10.1007/BF01910542

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1753437-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A 3' splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease.PMID 1753437Read ↗

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

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

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

[Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease].Semantic proximity Read ↗

[Molecular genetic analysis of a Japanese 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 ↗

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 ↗

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 ↗

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

A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.Semantic proximity Read ↗

Novel trinucleotide deletion in Fabry's disease.Semantic proximity Read ↗

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