Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys(m.8340G>A) gene variant-Reference-Cited by-同舟云学术

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Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys(m.8340G>A) gene variant

Published:2017-07-20 Issue:9 Volume:101 Page:1298-1302
ISSN:0007-1161
Container-title:British Journal of Ophthalmology
language:en
Short-container-title:Br J Ophthalmol

Author:

Gill Jaidip S,Hardy Steven A,Blakely Emma L,Hopton Sila,Nemeth Andrea H,Fratter Carl,Poulton Joanna,Taylor Robert W,Downes Susan M

Publisher

BMJ

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference20 articles.

1. Mitochondrial DNA mutations and human disease;Tuppen;Biochim Biophys Acta,2010

2. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease;Gorman;Ann Neurol,2015

3. mtDNA variation and analysis using mitomap and mitomaster;Lott;Curr Protoc Bioinformatics,2013

4. Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease;Blakely;Hum Mutat,2013

5. Mitochondrial DNA mutations in human disease;Taylor;Nat Rev Genet,2005

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2. Association Study Between Genetic Variation in Whole Mitochondrial Genome and Ischemic Stroke;Journal of Molecular Neuroscience;2021-01-14

3. Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease;PLOS ONE;2020-09-24

4. Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease;2020-05-13

5. CPEO – Like mitochondrial myopathy associated with m.8340G>A mutation;Mitochondrion;2019-05

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