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The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.
Laboratoire de Biochimie Génétique Centre National de la Recherche Scientifique, URA 1335, Hôpital Necker Enfants-Malades, Paris, France.
PMID: 9452051 [PubMed - indexed for MEDLINE]
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