Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

Complete hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency causes the Lesch-Nyhan syndrome, an X-linked, purine metabolism disorder manifested by hyperuricemia, hyperuricaciduria, and neurologic dysfunction. Partial HPRT deficiency causes hyperuricemia and gout. One requirement for un...

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Détails bibliographiques
Auteurs principaux: Davidson, B L, Tarlé, S A, Van Antwerp, M, Gibbs, D A, Watts, R W, Kelley, W N, Palella, T D
Format: Artigo
Langue:Inglês
Publié: 1991
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683055/
https://ncbi.nlm.nih.gov/pubmed/2018042
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