Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.

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Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.The Krebs Cycle Enzyme Isocitrate Dehydrogenase 3A Couples Mitochondrial Metabolism to Synaptic Transmission.

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Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.

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http://www.wikidata.org/entity/Q48004460

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2017年の論文

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2017年学术文章

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Homozygous mutation, p.Pro304H ...... ere encephalopathy in infancy.

@en

Homozygous mutation, p.Pro304H ...... ere encephalopathy in infancy.

@nl

type

Item

label

Homozygous mutation, p.Pro304H ...... ere encephalopathy in infancy.

@en

Homozygous mutation, p.Pro304H ...... ere encephalopathy in infancy.

@nl

prefLabel

Homozygous mutation, p.Pro304H ...... ere encephalopathy in infancy.

@en

Homozygous mutation, p.Pro304H ...... ere encephalopathy in infancy.

@nl

P1476

Homozygous mutation, p.Pro304H ...... ere encephalopathy in infancy.

@en

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Avraham Shaag

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Dror Mandel

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Ganit Elmaliach

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Hila Eliyahu

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Moran Hausman-Kedem

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NItai D Fraenkel

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Orly Elpeleg

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P2860

Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

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Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

Identification of Mn2+-binding aspartates from alpha, beta, and gamma subunits of human NAD-dependent isocitrate dehydrogenase.

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

Isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), fumarate hydratase (FH): three players for one phenotype in cancer?

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

Diphosphopyridine nucleotide dependent isocitrate dehydrogenase from pig heart. Charactgerization of the active substrate and modes of regulation.

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s10048-016-0507-z

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57-61

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scholarly article

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10.1007/S10048-016-0507-Z

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Ophry Pines

Aviva Fattal-Valevski

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2017-01-05T00:00:00Z

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P698

28058510

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Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.

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P2860

P2860

Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.

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