New insights into the phenotype of FARS2 deficiency.

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Phenotypic spectrum of FARS2-deficiency.Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei

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New insights into the phenotype of FARS2 deficiency.

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http://www.wikidata.org/entity/Q47149710

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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name

New insights into the phenotype of FARS2 deficiency.

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New insights into the phenotype of FARS2 deficiency.

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type

Item

label

New insights into the phenotype of FARS2 deficiency.

@en

New insights into the phenotype of FARS2 deficiency.

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prefLabel

New insights into the phenotype of FARS2 deficiency.

@en

New insights into the phenotype of FARS2 deficiency.

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P1476

New insights into the phenotype of FARS2 deficiency.

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Arnaud Vanlander

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Björn Menten

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Elise Vantroys

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Johan Van Hove

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Joél Smet

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Kaz Knight

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Marisa Friederich

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Michael A Swanson

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Rudy Van Coster

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Sara Seneca

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Analysis of protein-coding genetic variation in 60,706 humans

The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase

A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

The genetics of Leigh syndrome and its implications for clinical practice and risk management

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

Clinical and biochemical characterization of four patients with mutations in ECHS1.

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172-181

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scholarly article

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10.1016/J.YMGME.2017.10.004

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122

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Christopher A. Powell

Sarah Vergult

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2017-10-12T00:00:00Z

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29126765

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5734183

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New insights into the phenotype of FARS2 deficiency.

about

P2860

P2860

New insights into the phenotype of FARS2 deficiency.

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