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
Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome.
Tvrdik T et al.
Human Genetics, 1998
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