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Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia
Roughly 40 genes have been linked to autosomal recessive (AR) ataxia syndromes. Of these, at least 10 encode gene products localizing to the mitochondrion. tRNA-histidine guanylyltransferase 1 like (THG1L) localizes to the mitochondrion and catalyzes the 3′–5′ addition of guanine to the 5′-end of tR...
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| Published in: | Am J Med Genet A |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
2019
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8282352/ https://ncbi.nlm.nih.gov/pubmed/31168944 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61196 |
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