Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
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Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.In Vivo Assessment of Mitochondrial Dysfunction in Clinical Populations Using Near-Infrared Spectroscopy.Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
P2860
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
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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 26 June 2016
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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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name
Whole Exome Sequencing Identif ...... e of a Mitochondrial Disorder.
@en
Whole Exome Sequencing Identif ...... e of a Mitochondrial Disorder.
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type
label
Whole Exome Sequencing Identif ...... e of a Mitochondrial Disorder.
@en
Whole Exome Sequencing Identif ...... e of a Mitochondrial Disorder.
@nl
prefLabel
Whole Exome Sequencing Identif ...... e of a Mitochondrial Disorder.
@en
Whole Exome Sequencing Identif ...... e of a Mitochondrial Disorder.
@nl
P2093
P2860
P50
P356
P1476
Whole Exome Sequencing Identif ...... e of a Mitochondrial Disorder.
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P2093
Brendan Keating
Hakon Hakonarson
Jianguo Zhang
Jiankang Li
John Christodoulou
Lisa G Riley
Michael Nafisinia
Wendy A Gold
P2860
P304
P356
10.1007/8904_2016_541
P577
2016-06-26T00:00:00Z