Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. (Q51708433)

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scientific article published in July 2014

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English	Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.	scientific article published in July 2014

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Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. (English)

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Douglass Matthew Turnbull

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Robert McFarland

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Angela Pyle

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Mauro Santibanez-Korev

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Patrick F. Chinnery

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Emma L. Blakely

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Gráinne S. Gorman

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Angela Abicht

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Robert William Taylor

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Elke Holinski-Feder

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John W Yarham

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Andrew A Morris

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Vivienne C M Neeve

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Ulrike Schara

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Beril Talim

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Birgit Czermin

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Grace Vassallo

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Jennifer M Duff

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Tania Smertenko

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Venkateswaran Ramesh

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Stephanie Kleinle

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Langping He

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Andrew Best

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Ivo Baric

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English

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publication date

1 July 2014

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The Journal of the American Medical Association

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volume

312

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issue

1

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68-77

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ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

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MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

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Identifiers

DOI

10.1001/JAMA.2014.7184

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stated in

Europe PubMed Central

PMC publication ID

6558267

retrieved

3 July 2019

reference URL

http://europepmc.org/abstract/PMC/6558267

PMC publication ID

6558267

1 reference

stated in

Europe PubMed Central

PMC publication ID

6558267

retrieved

3 July 2019

reference URL

http://europepmc.org/abstract/PMC/6558267

PubMed publication ID

25058219

1 reference

stated in

Europe PubMed Central

PMC publication ID

6558267

retrieved

3 July 2019

reference URL

http://europepmc.org/abstract/PMC/6558267

ResearchGate publication ID

264245372

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