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A homozygous mutation of alanyl‐transfer RNA synthetase 2 in a patient of adult‐onset leukodystrophy: A case report and literature review
INTRODUCTION: Leukodystrophy is a group of hereditary leukoencephalopathies predominantly affecting the white matter. Multiple genes and mutations have been reported to be associated with this disorder. Identification of pathogenic genes can facilitate diagnosis of leukodystrophy and development of...
Autores principales: | Wang, Jian‐Yong, Chen, Song‐Fang, Zhang, Hong‐Qiu, Wang, Meng‐Yan, Zhu, Jian‐Hong, Zhang, Xiong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625477/ https://www.ncbi.nlm.nih.gov/pubmed/31106991 http://dx.doi.org/10.1002/brb3.1313 |
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