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Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series
BACKGROUND: Mitochondrial DNA depletion syndromes (MDS) are clinically and phenotypically heterogeneous disorders resulting from nuclear gene mutations. The affected individuals represent a notable reduction in mitochondrial DNA (mtDNA) content, which leads to malfunction of the components of the re...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | BMC Med Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6819644/ https://ncbi.nlm.nih.gov/pubmed/31664948 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0893-9 |
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