Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.

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Article

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.

The Journal of biological chemistry - 5 Jun 1990

Kornreich R, Bishop D F, Desnick R J

Abstract excerpt

Fabry disease, an inborn error of glycosphingolipid catabolism, results from mutations in the X-linked gene encoding the lysosomal enzyme, alpha-galactosidase A (EC 3.2.1.22). Six alpha-galactosidase A gene rearrangements that cause Fabry disease were investigated to assess the role of Alu repetitive elements and short direct and/or inverted repeats in the generation of these germinal mutations. The breakpoints...

Topics

Base Sequence
Chromosome Deletion
Cloning, Molecular
DNA Probes
Fabry Disease
Galactosidases
Gene Rearrangement
Humans
Introns
Molecular Sequence Data
Multigene Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nucleic Acid Hybridization

Polymerase Chain Reaction

Recombination, Genetic

Repetitive Sequences, Nucleic Acid

Sequence Homology, Nucleic Acid

alpha-Galactosidase

Source

Open in PubMed

Identifiers

PMID: 2160973

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2160973-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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