Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

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An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.

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Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

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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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Retinopathy and optic atrophy: ...... ic variants in the AARS2 gene.

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Retinopathy and optic atrophy: ...... ic variants in the AARS2 gene.

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Retinopathy and optic atrophy: ...... ic variants in the AARS2 gene.

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Retinopathy and optic atrophy: ...... ic variants in the AARS2 gene.

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Retinopathy and optic atrophy: ...... ic variants in the AARS2 gene.

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Retinopathy and optic atrophy: ...... ic variants in the AARS2 gene.

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Retinopathy and optic atrophy: ...... ic variants in the AARS2 gene.

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P2093

Jason H Peragallo

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

Marjo S van der Knaap

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Stephanie Keller

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Suma P Shankar

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P2860

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

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

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.

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1-4

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scholarly article

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10.1080/13816810.2017.1350723

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Bruno P. Soares

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2017-08-18T00:00:00Z

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28820624

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Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

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P2860

P2860

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

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P1433

P1476

P2093

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P932

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P1433

P1476

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P2860

P304

P31

P356

P50

P577

P698

P932