Associated Papers
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.
Cho JH et al.
Metabolic Brain Disease, 2019
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
[A Japanese family with Lesch-Nyhan syndrome resulting from a new point mutation in hypoxanthine-guanine phosphoribosyltransferase gene].
Maruta K et al.
No to Shinkei = Brain and Nerve, 1997
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
Kim KJ et al.
Journal of Korean Medical Science, 1997
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