Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland

Introduction: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic cause of renal impairment resulting from mutations in the MUC1, UMOD, HNF1B, REN, and SEC61A1 genes. Neither the national or global prevalence of these diseases has been determined. We aimed to establish a d...

Full description

Bibliographic Details
Main Authors: S. Cormican, D. M. Connaughton, C. Kennedy, S. Murray, M. Živná, S. Kmoch, N. K. Fennelly, P. O’Kelly, K. A. Benson, E. T. Conlon, G. Cavalleri, C. Foley, B. Doyle, A. Dorman, M. A. Little, P. Lavin, K. Kidd, A. J. Bleyer, P. J. Conlon
Format: Article
Language:English
Published: Taylor & Francis Group 2019-01-01
Series:Renal Failure
Subjects:
adtkd
genetic
muc-1
umod
chronic kidney disease
hnf-1b
urinary smear
frameshift
Online Access:http://dx.doi.org/10.1080/0886022X.2019.1655452

Internet

http://dx.doi.org/10.1080/0886022X.2019.1655452

Similar Items