Associated Papers
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
Jinnah HA et al.
Mutation Research, 2000
Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.
Willers I et al.
Journal of Inherited Metabolic Disease, 1999
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