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Fear of disease progression in carriers of the m.3243A > G mutation

BACKGROUND: Being diagnosed with mitochondrial disease due to the m.3243A > G mutation is frequently preceded by a long diagnostic process. The disease itself is characterized by heterogeneous course and expression, so leaving patients with considerable uncertainty regarding their prognosis and t...

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Publicat a:Orphanet J Rare Dis
Autors principals: Custers, José A. E., de Laat, Paul, Koene, Saskia, Smeitink, Jan, Janssen, Mirian C. H., Verhaak, Christianne
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6234600/
https://ncbi.nlm.nih.gov/pubmed/30424784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0951-y
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