EP.02Deep sequencing of mitochondrial DNA and functional characterization of a novel POLG mutation in a patient with autosomal recessive progressive external ophthalmoplegia

Autor:	Bradley Peter, D. Erdinc, J. Uhler, Anders Oldfors, Christopher Lindberg, Carola Hedberg-Oldfors, Bertil Macao, S. Basu, E. Larsson, Maria Falkenberg
Rok vydání:	2019
Předmět:	Genetics Mitochondrial DNA Neurology External ophthalmoplegia Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Neurology (clinical) Biology Genetics (clinical)
Zdroj:	Neuromuscular Disorders. 29:S70-S71
ISSN:	0960-8966
DOI:	10.1016/j.nmd.2019.06.132
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::4ba5b93601046212cae718c6fdc2c002 https://doi.org/10.1016/j.nmd.2019.06.132 Zobrazit plný text záznamu Full Text from ScienceDirect