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.
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Burgemeister R, Rotzer E, Gutensohn W, Gehrke M, Schiel W
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.
Hum Mutat. 1995;5(4):341-4.
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- 7627191 [ View in PubMed]
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