@article{c83dfc0405814dc39fbbeaa6d5620736,
title = "Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model",
keywords = "Mitochondrial disorder, Respiratory chain, Respirometry, Assembly factors, Blue native gel electrophoresis, Encephalopathy, Hepatopathy, Microglia, Barrel cortex, LETHAL METABOLIC-DISORDER, FETAL-GROWTH-RETARDATION, IRON-OVERLOAD, GRACILE SYNDROME, MITOCHONDRIAL DISEASE, SUBVENTRICULAR ZONE, LACTIC-ACIDOSIS, NEUROPATHOLOGY, NEUROGENESIS, MUTATIONS, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",
author = "Saara Tegelberg and Nikica Tomasic and Jukka Kallij{\"a}rvi and Janne Purhonen and Eskil Elmer and Eva Lindberg and Nord, {David Gisselsson} and Maria Soller and Nicole Lesko and Anna Wedell and Helene Bruhn and Christoph Freyer and Henrik Stranneheim and Rolf Wibom and Inger Nennesmo and Anna Wredenberg and Eklund, {Erik A.} and Vineta Fellman",
year = "2017",
month = apr,
day = "20",
doi = "10.1186/s13023-017-0624-2",
language = "English",
volume = "12",
journal = "Orphanet journal of rare diseases",
issn = "1750-1172",
publisher = "BMC",
}