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

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-glucuronidas...

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Autors principals: Vervoort, R, Islam, M R, Sly, W, Chabas, A, Wevers, R, de Jong, J, Liebaers, I, Lissens, W
Format: Artigo
Idioma:Inglês
Publicat: 1995
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801516/
https://ncbi.nlm.nih.gov/pubmed/7573038
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