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Article

Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect.

The Journal of clinical investigation - 1 May 1993

Morisaki H, Morisaki T, Newby L K, Holmes E W

Abstract excerpt

Approximately 2% of Caucasians and African-Americans are homozygous for a nonsense mutation in exon 2 of the AMPD1 (AMP deaminase) gene. These individuals have a high grade deficiency of AMPD activity in their skeletal muscle. More than 100 patients with AMPD1 deficiency have been reported to hav...

Topics

AMP Deaminase
Actins
Adult
Alternative Splicing
Animals
Base Sequence
Black People
Escherichia coli
Exons
Genes
Homozygote
Humans
Introns

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mice

Molecular Sequence Data

Muscles

Mutation

Oligodeoxyribonucleotides

Source

Open in PubMed Open full text

Identifiers

PMID: 8486786
DOI: 10.1172/JCI116455
PMCID: PMC288231

Genes

AMPD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8486786-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect.PMID 8486786Read ↗

Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.Semantic proximity Read ↗

Positive and negative elements mediate control of alternative splicing in the AMPD1 gene.Semantic proximity Read ↗

Exon recognition and nucleocytoplasmic partitioning determine AMPD1 alternative transcript production.Semantic proximity Read ↗

Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiencySemantic proximity Read ↗

Molecular biology of AMP deaminase deficiency.Semantic proximity Read ↗

Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons.Semantic proximity Read ↗

Identification of functional domains in AMPD1 by mutational analysis.Semantic proximity Read ↗

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.Semantic proximity Read ↗

Tissue-specific splicing of a ubiquitously expressed transcription factor is essential for muscle differentiation.Semantic proximity Read ↗

[Family of AMP-deaminase genes].Semantic proximity Read ↗

[Can mutation of the AMPD1 gene encoding human deaminase muscle muscle isozyme AMP be a prognostic marker of primary dilated cardiomyopathy?].Semantic proximity Read ↗

Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.Semantic proximity Read ↗

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