Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria. - Wikidata - awgldk - TriplyDB

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.

http://www.wikidata.org/entity/Q37704828

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Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.

http://www.wikidata.org/entity/Q37704828

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on January 2014

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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Two novel compound heterozygou ...... d 3-methylglutaconic aciduria.

@en

Two novel compound heterozygou ...... d 3-methylglutaconic aciduria.

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type

label

Two novel compound heterozygou ...... d 3-methylglutaconic aciduria.

@en

Two novel compound heterozygou ...... d 3-methylglutaconic aciduria.

@nl

prefLabel

Two novel compound heterozygou ...... d 3-methylglutaconic aciduria.

@en

Two novel compound heterozygou ...... d 3-methylglutaconic aciduria.

@nl

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J.YMGMR.2014.02.003

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Molecular Genetics and Metabolism Reports

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Two novel compound heterozygou ...... d 3-methylglutaconic aciduria.

@en

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Carla Ciccone

http://www.w3.org/2001/XMLSchema#string

Christina Lam

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George E Hoganson

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Heidi Dorward

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Linda K Gallo

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Lynne Wolfe

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Marjan Huizing

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Richard Dineen

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William A Gahl

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P2860

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

The scanning model for translation: an update

Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration

A missense mutation in the murine Opa3 gene models human Costeff syndrome

Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.

Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.

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114-123

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scholarly article

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10.1016/J.YMGMR.2014.02.003

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1

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2014-01-01T00:00:00Z

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261773923

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