Identification of a new missense mutation in exon ...[Hum Mutat. 1995] - PubMed Result

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

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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Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribos...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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