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...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: लेख
भाषा:English
प्रकाशित: Public Library of Science (PLoS) 2017-03-01
श्रृंखला:PLoS Genetics
ऑनलाइन पहुंच:http://europepmc.org/articles/PMC5360345?pdf=render