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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...

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Detalles Bibliográficos
Autores principales: Cormican, S., Connaughton, D. M., Kennedy, C., Murray, S., Živná, M., Kmoch, S., Fennelly, N. K., O’Kelly, P., Benson, K. A., Conlon, E. T., Cavalleri, G., Foley, C., Doyle, B., Dorman, A., Little, M. A., Lavin, P., Kidd, K., Bleyer, A. J., Conlon, P. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746258/
https://www.ncbi.nlm.nih.gov/pubmed/31509055
http://dx.doi.org/10.1080/0886022X.2019.1655452