Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

Tubulointerstitial kidney disease is an important cause of progressive renal failure whose aetiology is incompletely understood. We analysed a large pedigree with maternally inherited tubulointerstitial kidney disease and identified a homoplasmic substitution in the control region of the mitochondri...

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Detalles Bibliográficos
Autores principales: Connor, Thomas M., Hoer, Simon, Mallett, Andrew, Gale, Daniel P., Gomez-Duran, Aurora, Posse, Viktor, Antrobus, Robin, Moreno, Pablo, Sciacovelli, Marco, Frezza, Christian, Duff, Jennifer, Sheerin, Neil S., Sayer, John A., Ashcroft, Margaret, Wiesener, Michael S., Hudson, Gavin, Gustafsson, Claes M., Chinnery, Patrick F., Maxwell, Patrick H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360345/
https://www.ncbi.nlm.nih.gov/pubmed/28267784
http://dx.doi.org/10.1371/journal.pgen.1006620

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