Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.

In past reports of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency a marked degree of molecular heterogeneity has been noted. We have previously described two apparently unrelated subjects with partial HPRT deficiency, G.S. and D.B., who have a mutant form of HPRT with remarkably si...

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Autores principales: Davidson, B L, Chin, S J, Wilson, J M, Kelley, W N, Palella, T D
Formato: Artigo
Lenguaje:Inglês
Publicado: 1988
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC442801/
https://ncbi.nlm.nih.gov/pubmed/3198771
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