Advances in molecular diagnostics for mitochondrial diseases.

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Advances in molecular diagnostics for mitochondrial diseases.

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2009 nî lūn-bûn

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2009年の論文

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年學術文章

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2009年學術文章

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2009年學術文章

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Advances in molecular diagnostics for mitochondrial diseases.

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Advances in molecular diagnostics for mitochondrial diseases.

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Advances in molecular diagnostics for mitochondrial diseases.

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Advances in molecular diagnostics for mitochondrial diseases.

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Advances in molecular diagnostics for mitochondrial diseases.

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Advances in molecular diagnostics for mitochondrial diseases.

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P1476

Advances in molecular diagnostics for mitochondrial diseases.

@en

P2093

Annalisa Lo Gerfo

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Daniele Orsucci

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Gabriele Siciliano

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Michelangelo Mancuso

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P2860

MIDAS/GPP34, a nuclear gene product, regulates total mitochondrial mass in response to mitochondrial dysfunction

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

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

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

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

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

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.

Detection Technologies. Ambient mass spectrometry

Mitochondrial respiratory-chain diseases

P304

557-569

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P31

scholarly article

P356

10.1517/17530050902967610

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P407

English

P433

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P478

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P50

Gabriella Fontanini

Greta Alì

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2009-07-16T00:00:00Z

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P698

23495985

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