Ontology highlight
ABSTRACT:
SUBMITTER: Lechowicz U
PROVIDER: S-EPMC5780123 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Lechowicz Urszula U Pollak Agnieszka A Frączak Agnieszka A Rydzanicz Małgorzata M Stawiński Piotr P Lorens Artur A Skarżyński Piotr H PH Skarżyński Henryk H Płoski Rafał R Ołdak Monika M
Molecular medicine reports 20171115 1
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 serine 1 (UCN) gene. Next‑generation sequencing was used to search for the HL mutations in the whole mtDNA of 2 patients with maternal inheritance and real time‑polymerase chain reaction was applied for pop ...[more]