Literature DB >> 7915931

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

A Sahota1, J Chen, S A Boyadjiev, M H Gault, J A Tischfield.   

Abstract

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Year:  1994        PMID： 7915931     DOI： 10.1093/hmg/3.5.817

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  4 in total

1.  Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.

Authors:  Kati Kaartinen; Ulla Hemmilä; Kaija Salmela; Anne Räisänen-Sokolowski; Timo Kouri; Satu Mäkelä
Journal:  J Am Soc Nephrol       Date:  2014-01-23       Impact factor: 10.121

2.  Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

Authors:  Guillaume Bollée; Cécile Dollinger; Lucile Boutaud; Delphine Guillemot; Albert Bensman; Jérôme Harambat; Patrice Deteix; Michel Daudon; Bertrand Knebelmann; Irène Ceballos-Picot
Journal:  J Am Soc Nephrol       Date:  2010-02-11       Impact factor: 10.121

3.  Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.

Authors:  S J Engle; M G Stockelman; J Chen; G Boivin; M N Yum; P M Davies; M Y Ying; A Sahota; H A Simmonds; P J Stambrook; J A Tischfield
Journal:  Proc Natl Acad Sci U S A       Date:  1996-05-28       Impact factor: 11.205

Review 4.  Hereditary causes of kidney stones and chronic kidney disease.

Authors:  Vidar O Edvardsson; David S Goldfarb; John C Lieske; Lada Beara-Lasic; Franca Anglani; Dawn S Milliner; Runolfur Palsson
Journal:  Pediatr Nephrol       Date:  2013-01-20       Impact factor: 3.714
  4 in total

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