Correlation Between Vanishing White Matter Disease and Novel Heterozygous 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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Academy of Rehabilitation Medicine
2019-04-01
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| Series: | Annals of Rehabilitation Medicine |
| Subjects: | |
| Online Access: | http://www.e-arm.org/upload/pdf/arm-2019-43-2-234.pdf |