Human HPRT1 gene and the Lesch–Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein
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DOI: 10.1080/15257770.2016.1231319
Abstract: ABSTRACT Lesch–Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report three novel independent mutations in the coding region of… read more here.
Keywords: hprt1 gene; gene; lesch nyhan; nyhan disease ... See more keywords