Učitavanje...
Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy
Background: Infantile onset progressive leukoencephalopathy with or without deafness is an autosomal recessive neurodegenerative disorder with variable clinical presentation, manifesting in infancy or early childhood. This disorders is one of KARS1 gene mutation spectrum that results mostly from com...
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| Glavni autori: | , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Discover STM Publishing Ltd
2023-02-01
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| Serija: | Journal of Biochemical and Clinical Genetics |
| Teme: | |
| Online pristup: | https://www.jbcgenetics.com/?mno=175389 |
| Oznake: |
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