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    Hum Mutat. 1995;5(4):341-4.

    Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.

    Burgemeister R, Rötzer E, Gutensohn W, Gehrke M, Schiel W.

    Institut für Anthropologie and Humangenetik, München, Germany.

    PMID: 7627191 [PubMed - indexed for MEDLINE]

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