Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.

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Sahota A, Chen J, Boyadjiev SA, Gault MH, Tischfield JA

Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.

Hum Mol Genet. 1994 May;3(5):817-8.

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7915931 [ View in PubMed
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Polypeptides
NameUniProt ID
Adenine phosphoribosyltransferaseP07741Details