Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

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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Bibliographic Details
Main Authors: Thomas M Connor, Simon Hoer, Andrew Mallett, Daniel P Gale, Aurora Gomez-Duran, Viktor Posse, Robin Antrobus, Pablo Moreno, Marco Sciacovelli, Christian Frezza, Jennifer Duff, Neil S Sheerin, John A Sayer, Margaret Ashcroft, Michael S Wiesener, Gavin Hudson, Claes M Gustafsson, Patrick F Chinnery, Patrick H Maxwell
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-03-01
Series:PLoS Genetics
Online Access:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1006620&type=printable
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