Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

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Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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name

Clinical, biochemical and gene ...... related mitochondrial disease.

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Clinical, biochemical and gene ...... related mitochondrial disease.

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type

Item

label

Clinical, biochemical and gene ...... related mitochondrial disease.

@en

Clinical, biochemical and gene ...... related mitochondrial disease.

@nl

prefLabel

Clinical, biochemical and gene ...... related mitochondrial disease.

@en

Clinical, biochemical and gene ...... related mitochondrial disease.

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P1476

Clinical, biochemical, and gen ...... -related mitochondrial disease

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Anna Ardissone

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Bertini Enrico

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Daniele Ghezzi

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Emanuele Bellacchio

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Ewa Skorupa

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Hanna Mandel

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Isabella Moroni

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Langping He

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Penelope E Bonnen

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Pirjo Isohanni

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P2860

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

WebLogo: A Sequence Logo Generator

Comparative protein modelling by satisfaction of spatial restraints

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

Novel (ovario) leukodystrophy related to AARS2 mutations

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563-578

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scholarly article

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10.1002/HUMU.23398

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2018-02-07T00:00:00Z

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29314548

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5873438

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