Am J Hum Genet. 1991 May;48(5):983-9.

2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.

Sahota A, Chen J, Behzadian MA, Ravindra R, Takeuchi H, Stambrook PJ, Tischfield JA.

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Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46202-5251.

Abstract

All reported cases of 2,8-dihydroxyadenine (DHA) lithiasis have been due to functional homozygous deficiency of adenine phosphoribosyltransferase (APRT). Here we describe the first case of DHA lithiasis in a patient who has functional APRT activity in cultured lymphoblasts. The patient is heterozygous for Japanese-type (type II) APRT deficiency as demonstrated by starch-gel electrophoresis and DNA sequence analysis. We also demonstrate the use of starch-gel electrophoresis for differentiation between the type II mutant enzyme and the wild-type enzyme.

PMID:: 1673292; [PubMed - indexed for MEDLINE]
PMCID:: PMC1683049

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Cited by 3 PubMed Central articles

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