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Article

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

American journal of human genetics - 1 Oct 1995

Vervoort R, Islam M R, Sly W, Chabas A, Wevers R, de Jong J, Liebaers I, Lissens W

Abstract excerpt

We present evidence that a 480G-->A transition in the coding region of the beta-glucuronidase gene, which results in an aspartic-acid-to-asparagine substitution at amino acid position 152 (D152N), produces a pseudodeficiency allele (GUSBp) that leads to greatly reduced levels of beta-glucuronidase activity without apparent deleterious consequences. The 480G-->A mutation was found initially in the pseudodeficient...

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Identifiers

PMID: 7573038
PMCID: PMC1801516

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