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Application of next-generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss

Interruptions in the activity of mitochondria induced by mutations in the mitochondrial genome (mtDNA) can be the source of numerous diseases including hearing loss (HL). One of the mitochondrial variants responsible for HL is the m.7511T>C mutation located in the mitochondrially encoded tRNA ser...

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Dades bibliogràfiques
Publicat a:Mol Med Rep
Autors principals: Lechowicz, Urszula, Pollak, Agnieszka, Frączak, Agnieszka, Rydzanicz, Małgorzata, Stawiński, Piotr, Lorens, Artur, Skarżyński, Piotr H., Skarżyński, Henryk, Płoski, Rafał, Ołdak, Monika
Format: Artigo
Idioma:Inglês
Publicat: D.A. Spandidos 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5780123/
https://ncbi.nlm.nih.gov/pubmed/29257206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2017.8064
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