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A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

We characterized 24 unrelated patients with a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) in an attempt to better understand the nature and spectrum of mutations that underlie this prototype-inherited disease. Lymphoblast cell lines derived from each patient were a...

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Détails bibliographiques
Auteurs principaux: Wilson, J M, Stout, J T, Palella, T D, Davidson, B L, Kelley, W N, Caskey, C T
Format: Artigo
Langue:Inglês
Publié: 1986
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC423326/
https://ncbi.nlm.nih.gov/pubmed/3944251
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