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An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice

Renal calcification (RCALC) resulting in nephrolithiasis and nephrocalcinosis, which affects ∼10% of adults by 70 years of age, involves environmental and genetic etiologies. Thus, nephrolithiasis and nephrocalcinosis occurs as an inherited disorder in ∼65% of patients, and may be associated with en...

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Veröffentlicht in:J Bone Miner Res
Hauptverfasser: Gorvin, Caroline M, Ahmad, Bushra N, Stechman, Michael J, Loh, Nellie Y, Hough, Tertius A, Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bentley, Liz, Piret, Sian E, Reed, Anita, Jeyabalan, Jeshmi, Christie, Paul T, Wells, Sara, Simon, Michelle M, Mallon, Ann‐Marie, Schulz, Herbert, Huebner, Norbert, Brown, Matthew A, Cox, Roger D, Brown, Steve D, Thakker, Rajesh V
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2018
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6446808/
https://ncbi.nlm.nih.gov/pubmed/30395686
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.3624
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