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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Pubblicato in:PLoS Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2017
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5360345/
https://ncbi.nlm.nih.gov/pubmed/28267784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006620
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