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...

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Detalles Bibliográficos
Autores principales: Wang, Jian‐Yong, Chen, Song‐Fang, Zhang, Hong‐Qiu, Wang, Meng‐Yan, Zhu, Jian‐Hong, Zhang, Xiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Research
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

Internet

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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