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...

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Dades bibliogràfiques
Publicat a:BMC Med Genet
Autors principals: Mahjoub, Ghazale, Habibzadeh, Parham, Dastsooz, Hassan, Mirzaei, Malihe, Kavosi, Arghavan, Jamali, Laila, Javanmardi, Haniyeh, Katibeh, Pegah, Faghihi, Mohammad Ali, Dastgheib, Seyed Alireza
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2019
Matèries:
Case Report
Accés en línia: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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