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

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

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

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

PMID: 7915931 [PubMed - indexed for MEDLINE]

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Cited by 1 PubMed Central article

Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.
Engle SJ, Stockelman MG, Chen J, Boivin G, Yum MN, Davies PM, Ying MY, Sahota A, Simmonds HA, Stambrook PJ, et al. Proc Natl Acad Sci U S A. 1996 May 28; 93(11):5307-12.

[Proc Natl Acad Sci U S A. 1996]

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