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Article

Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation.

American journal of human genetics - 1 Jul 2003

Yasuda Makiko, Shabbeer Junaid, Osawa Makiko, Desnick Robert J

Abstract excerpt

Mutations in the gene that encodes the lysosomal exoglycohydrolase, alpha-galactosidase A (alpha-GalA), cause Fabry disease, an X-linked recessive inborn error of glycosphingolipid catabolism. Human alpha-GalA is one of the rare mammalian genes that has its polyadenylation signal in the coding sequence and lacks a 3' untranslated region (UTR). We identified two novel frameshift mutations, 1277delAA (del2) and...

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PMID: 12796853
DOI: 10.1086/376608
PMCID: PMC1180577

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