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Article

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

American journal of human genetics - 1 Apr 2002

Ishii Satoshi, Nakao Shoichiro, Minamikawa-Tachino Reiko, Desnick Robert J, Fan Jian-Qiang

Abstract excerpt

Fabry disease is an inborn error of glycosphingolipid catabolism, resulting from deficient activity of lysosomal alpha-galactosidase A (alpha-Gal A). A rare alternative splicing that introduces a 57-nucleotide (nt) intronic sequence to the alpha-Gal A transcript from intron 4 of the gene has been identified. In addition, a novel midintronic base substitution that results in substantially increased alternative...

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Identifiers

PMID: 11828341
DOI: 10.1086/339431
PMCID: PMC379133

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Source receipt: pubmed, retrieved 7 Sept 2026.

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