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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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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The American Society of Human Genetics
2002
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC379133/ https://ncbi.nlm.nih.gov/pubmed/11828341 |
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