Two Korean siblings with recently described ovarioleukodystrophy related to AARS2 mutations.

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Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations.

P2860

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Two Korean siblings with recently described ovarioleukodystrophy related to AARS2 mutations.

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http://www.wikidata.org/entity/Q53117865

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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年学术文章

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2017年學術文章

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2017年學術文章

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name

Two Korean siblings with recen ...... hy related to AARS2 mutations.

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Two Korean siblings with recen ...... hy related to AARS2 mutations.

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type

Item

label

Two Korean siblings with recen ...... hy related to AARS2 mutations.

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Two Korean siblings with recen ...... hy related to AARS2 mutations.

@nl

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Two Korean siblings with recen ...... hy related to AARS2 mutations.

@en

Two Korean siblings with recen ...... hy related to AARS2 mutations.

@nl

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Two Korean siblings with recen ...... phy related to AARS2 mutations

@en

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B Jeon

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B-J Gwon

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E-M Lee

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H-J Kim

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J-C Ryu

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J-H Kwon

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J-M Lee

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J-Y Park

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S H Park

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S-T Lee

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P2860

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

TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology

Novel (ovario) leukodystrophy related to AARS2 mutations

Whole exome sequencing in patients with white matter abnormalities.

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Novel AARS2 gene mutation producing leukodystrophy: a case report.

Invited article: an MRI-based approach to the diagnosis of white matter disorders.

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.

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e21-e22

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scholarly article

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10.1111/ENE.13245

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Hui-Jun Yang

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2017-04-01T00:00:00Z

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28322004

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P921

sibling

Two Korean siblings with recently described ovarioleukodystrophy related to AARS2 mutations.

about

P2860

P2860

Two Korean siblings with recently described ovarioleukodystrophy related to AARS2 mutations.

description

name

type

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prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

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P577

P698

P921

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921