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Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease

Mitochondrial disease can be attributed to both mitochondrial and nuclear gene mutations. It has a heterogeneous clinical and biochemical profile, which is compounded by the diversity of the genetic background. Disease-based epidemiological information has expanded significantly in recent decades, b...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: van der Walt, Elizna M, Smuts, Izelle, Taylor, Robert W, Elson, Joanna L, Turnbull, Douglass M, Louw, Roan, van der Westhuizen, Francois H
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2012
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3355259/
https://ncbi.nlm.nih.gov/pubmed/22258525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.262
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