The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria.

doi:10.1172/JCI117404

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Article

The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria.

The Journal of clinical investigation - 1 Aug 1994

Wang A M, Kanzaki T, Desnick R J

Abstract excerpt

Angiokeratoma corporis diffusum with glycopeptiduria is a recently recognized inborn error of glycoprotein catabolism resulting from the deficient activity of human alpha-N-acetylgalactosaminidase (E.C. 3.2.1.49; alpha-GalNAc). The first patient with this autosomal recessive disorder, a 46-yr-old...

Topics

Base Sequence
Cell Line
Fabry Disease
Female
Glycopeptides
Hexosaminidases
Humans
Molecular Sequence Data
Mutation
alpha-N-Acetylgalactosaminidase

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