Title : Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale).

Pub. Date : 1989

PMID : 2624182






1 Functional Relationships(s)
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1 We have cloned and sequenced a full length cDNA for HPRT cDNA for HPRTYale isolated from Lesch-Nyhan subject and identified a single nucleotide substitution which results in amino acid substitution of glycine to arginine. Glycine hypoxanthine phosphoribosyltransferase 1 Homo sapiens