A variant of the gene <i>HARS</i> detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years.

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作者： Raquel,Lahoz Alonso ^[1] ; Paula,Sienes Bailo ^[1] ; Jose Luis,Capablo Liesa ^[2] ; Sara,Álvarez de Andrés ^[3] ; Jose Luis,Bancalero Flores ^[1] ; Silvia,Izquierdo Álvarez ^[1]

作者单位： Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain. ^[1] Department of Neurology, Hospital Universitario Miguel Servet, Zaragoza, Spain. ^[2] NIMGenetics, Madrid, Spain. ^[3]

关键词 Charcot-Marie-Tooth disease, axonal, type 2W HARS protein, human exome

DOI 10.1515/almed-2020-0033

PMID 37360614

发布时间 2023-07-01

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Advances in laboratory medicine

2020年1卷4期

20200033页

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A variant of the gene <i>HARS</i> detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years.

Advances in laboratory medicine

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Advances in laboratory medicine

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A variant of the gene <i>HARS</i> detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years.

Advances in laboratory medicine

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Advances in laboratory medicine

相关期刊

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