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Novel compound heterozygous mutations expand the recognized phenotypes of FARS2-linked disease
Mutations in mitochondrial aminoacyl-tRNA synthetases are an increasingly recognized cause of human diseases, often arising in individuals with compound heterozygous mutations and presenting with system-specific phenotypes, frequently neurologic. FARS2 encodes mitochondrial phenylalanyl transfer RNA...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Child Neurol |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4981184/ https://ncbi.nlm.nih.gov/pubmed/27095821 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073816643402 |
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