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ea0034oc4.6 | Thyroid and bone | SFEBES2014

An ENU-induced Tyr265Stop mutation in Polg2 is associated with renal calcification in RCALC2 mice

Gorvin Caroline , Piret Sian , Ahmad Bushra , Stechman Michael , Loh Nellie , Hough Tertius , Leo Paul , Marshall Mhairi , Sethi Siddharth , Bentley Liz , Reed Anita , Christie Paul , Simon Michelle , Mallon Ann-Marie , Brown Matthew , Cox Roger , Brown Steve , Thakker Rajesh

Renal calcification (nephrocalcinosis), which has a multi-factorial etiology involving environmental and genetic determinants, affects ~8% of adults by 70 years. Nephrocalcinosis may occur as a familial disorder in ~65% of patients, and in 70% of patients, nephrocalcinosis may be associated with endocrine and metabolic disorders that include primary hyperparathyroidism, renal tubular acidosis, hypercalciuria, cystinuria, and hyperoxaluria. Investigations of families with hered...

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Endocrine Abstracts

An ENU-induced Tyr265Stop mutation in Polg2 is associated with renal calcification in RCALC2 mice

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