Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. (Q48115880)

8 February 2018

title

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. (English)

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7

Kym M Boycott

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Jacques L Michaud

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author name string

Martine Tetreault

1

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Somayyeh Fahiminiya

2

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Hana Antonicka

3

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Grant A Mitchell

4

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Michael T Geraghty

5

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Matthew Lines

6

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Eric A Shoubridge

8

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John J Mitchell

9

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Care4Rare Canada Consortium

10

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Jacek Majewski

12

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publication date

23 June 2015

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8 February 2018

published in

Human Genetics

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volume

134

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page(s)

981-991

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issue

9

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https://scigraph.springernature.com/pub.10.1007/s00439-015-1577-y

exact match

0 references

cites work

Long survival in Leigh syndrome: new cases and review of literature

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Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1577-Y

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1577-Y

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1577-Y

Human allelic variation: perspective from protein function, structure, and evolution

21 January 2018

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Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1577-Y

Late-adult onset Leigh syndrome.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1577-Y

Hereditary and acquired diseases of acyl-coenzyme A metabolism

21 January 2018

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ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1577-Y

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

21 January 2018

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A rare mitochondrial disorder: Leigh syndrome--a case report.

21 January 2018

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Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

21 January 2018

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The genetics of Leigh syndrome and its implications for clinical practice and risk management

21 January 2018

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12 December 2020

Subacute necrotizing encephalomyelopathy (LEIGH).

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12 December 2020

Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics

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12 December 2020

ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome

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12 December 2020

A treatable new cause of chorea: beta-ketothiolase deficiency

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12 December 2020

10.1007/S00439-015-1577-Y

Identifiers

DOI

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8 February 2018

PubMed ID

26099313

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8 February 2018