Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.

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Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.

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2017 nî lūn-bûn

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Estimating the occurrence of p ...... f large-scale sequencing data.

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Estimating the occurrence of p ...... f large-scale sequencing data.

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Estimating the occurrence of p ...... f large-scale sequencing data.

@en

Estimating the occurrence of p ...... f large-scale sequencing data.

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Estimating the occurrence of p ...... f large-scale sequencing data.

@en

Estimating the occurrence of p ...... f large-scale sequencing data.

@nl

P1476

Estimating the occurrence of p ...... f large-scale sequencing data.

@en

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Bryan G Hughes

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Paul M Harrison

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Siegfried Hekimi

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P2860

Finding the missing heritability of complex diseases

Treatment for mitochondrial disorders

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

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

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

Analysis of protein-coding genetic variation in 60,706 humans

Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity

Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency

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s41598-017-17564-y

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scholarly article

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10.1038/S41598-017-17564-Y

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English

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P478

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2017-12-18T00:00:00Z

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29255295

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5735152

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