Mutational basis of adenine phosphoribosyltransferase deficiency.

Abstract excerpt

The mutational basis of APRT deficiency was studied in non-Japanese and Japanese patients. Fifteen different mutations have been identified altogether. Of these 4 were common, 6 were located in exon 3, and two at the exon 4-intron 4 junction. The common mutations were a missense mutation in exon 3 (asp65----val) and a T insertion at the exon 4-intron 4 junction in non-Japanese patients, a nonsense mutation in...

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