Molecular diagnosis of coenzyme Q10 deficiency.

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http://www.wikidata.org/entity/Q38542981

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2015 nî lūn-bûn

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2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

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2015年论文

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2015年论文

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name

Molecular diagnosis of coenzyme Q10 deficiency.

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type

Item

label

Molecular diagnosis of coenzyme Q10 deficiency.

@en

prefLabel

Molecular diagnosis of coenzyme Q10 deficiency.

@en

P1476

Molecular diagnosis of coenzyme Q10 deficiency

@en

P2093

Judith Armstrong

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Leonardo Salviati

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Placido Navas

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Rafael Artuch

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Raquel Montero

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P2860

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

A new approach to 'megaprimer' polymerase chain reaction mutagenesis without an intermediate gel purification step

Sequencing technologies - the next generation

P304

1049-1059

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scholarly article

P356

10.1586/14737159.2015.1062727

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P433

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P478

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2015-07-04T00:00:00Z

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279808536

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P698

26144946

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P921

ubidecarenone

Molecular diagnosis of coenzyme Q10 deficiency.

about

P2860

P2860

Molecular diagnosis of coenzyme Q10 deficiency.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921