Article
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.
Human mutation - 1 Jan 1995
Burgemeister R, Rötzer E, Gutensohn W, Gehrke M, Schiel W
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