Browsing by Author "Abbs, S."

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Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

Clissold, Rhian L.; Clarke, H. C.; Spasic-Boskovic, O.; Brugger, K.; Abbs, S.; Bingham, Coralie; Shaw-Smith, Charles (BioMed Central, 2017-07-12)

Heterozygous mutations in the gene encoding renin (REN) cause autosomal dominant tubulointerstitial kidney disease (ADTKD), early-onset anaemia and hyperuricaemia; only four different mutations have been described in the ...