Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report

Vanishing white matter (VWM) disease is an autosomal recessive disorder that affects the central nervous system of a patient, and is caused by the development of pathogenic mutations in any of the EIF2B1-5 genes. Any dysfunction of the EIF2B1-5 gene encoded eIF2B causes stress-provoked episodic rapi...

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Detalles Bibliográficos
Autores principales: Hyun, Sung Eun, Choi, Byung Se, Jang, Ja-Hyun, Jeon, Inpyo, Jang, Dae-Hyun, Ryu, Ju Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Academy of Rehabilitation Medicine 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509580/
https://www.ncbi.nlm.nih.gov/pubmed/31072091
http://dx.doi.org/10.5535/arm.2019.43.2.234

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