Alternative Splicing in the α-Galactosidase A Gene: Increased Exon Inclusion Results in the Fabry Cardiac Phenotype

Fabry disease is an inborn error of glycosphingolipid catabolism, resulting from deficient activity of lysosomal α-galactosidase A (α-Gal A). A rare alternative splicing that introduces a 57-nucleotide (nt) intronic sequence to the α-Gal A transcript from intron 4 of the gene has been identified. In...

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Bibliographic Details
Main Authors:	Ishii, Satoshi, Nakao, Shoichiro, Minamikawa-Tachino, Reiko, Desnick, Robert J., Fan, Jian-Qiang
Format:	Artigo
Language:	Inglês
Published:	The American Society of Human Genetics 2002
Subjects:	Report
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC379133/ https://ncbi.nlm.nih.gov/pubmed/11828341
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Alternative Splicing in the α-Galactosidase A Gene: Increased Exon Inclusion Results in the Fabry Cardiac Phenotype

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