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Article

Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.

Genomics - 1 Apr 1992

Sakuraba H, Eng C M, Desnick R J, Bishop D F

Abstract excerpt

Fabry disease, an inborn error of glycosphingolipid catabolism, results from lesions in the X-linked gene encoding the human lysosomal hydrolase, alpha-galactosidase A (alpha-D-galactoside galactohydrolase; EC 3.2.1.22). To detect alpha-galactosidase A RNA processing or stability defects causing Fabry disease, Northern hybridization analyses were performed with poly(A)+ RNA isolated from cultured lymphoblasts...

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PMID: 1315304
DOI: 10.1016/0888-7543(92)90288-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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