Case Report: Mutation in AIMP2/P38, the Scaffold for the Multi-Trna Synthetase Complex, and Association With Progressive Neurodevelopmental Disorders.

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作者： Mahta,Mazaheri ^[1] ; Mahdie,Yavari ^[2] ; Hadi,Zare Marzouni ^[3] ; Angela,Stufano ^[3] ; Piero,Lovreglio ^[4] ; Simona,S'Amore ^[5] ; Hamid Reza,Jahantigh ^[6]

作者单位： Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. ^[1] Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. ^[2] Dr. Mazaheri's Medical Genetics Lab, Yazd, Iran. ^[3] Division of Genetics, Department of Cell and Molecular Biology and Microbiology, Faculty of Science and Biotechnology, University of Isfahan, Isfahan, Iran. ^[4] Qaen School of Nursing and Midwifery, Birjand University of Medical Sciences, Birjand, Iran. ^[5] Department of Veterinary Medicine, University of Bari Aldo Moro, Bari, Italy. ^[6] Interdisciplinary Department of Medicine - Section of Occupational Medicine, University of Bari, Bari, Italy. ^[7] Department of Medicine, University of Cambridge, Cambridge, United Kingdom. ^[8]

关键词 AIMP2/P38 WES leukodystrophies multi-tRNA synthetase complex neurodevelopmental disorders

DOI 10.3389/fgene.2022.816987

PMID 35140751

发布时间 2022-02-16

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Frontiers in genetics

2022年13卷

816987页

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Case Report: Mutation in AIMP2/P38, the Scaffold for the Multi-Trna Synthetase Complex, and Association With Progressive Neurodevelopmental Disorders.

Frontiers in genetics

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Frontiers in genetics

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Case Report: Mutation in AIMP2/P38, the Scaffold for the Multi-Trna Synthetase Complex, and Association With Progressive Neurodevelopmental Disorders.

Frontiers in genetics

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Frontiers in genetics

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