@article{6fee0456f53c463eaec4a9ebf871ab52,
title = "The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.",
keywords = "INTERSUBUNIT BRIDGE REGIONS, SYNDROMIC HEARING-LOSS, INITIATION-FACTOR 1, ESCHERICHIA-COLI, DNA MUTATIONS, BACTERIAL RIBOSOME, MESSENGER-RNA, SPECTINOMYCIN RESISTANCE, ANGSTROM RESOLUTION, CENTRAL PSEUDOKNOT",
author = "Smith, {Paul M} and Elson, {Joanna L} and Greaves, {Laura C} and Saskia Wortmann and Rodenburg, {Richard J T} and Lightowlers, {Robert N} and Chrzanowska-Lightowlers, {Zofia M A} and Taylor, {Robert W} and Ant{\'o}n Vila-Sanjurjo",
note = "Paul M. Smith 1,2, Joanna L. Elson 3,4, Laura C. Greaves 2,5, Saskia B. Wortmann 6, Richard J.T. Rodenburg 6, Robert N. Lightowlers 2, Zofia M.A. Chrzanowska-Lightowlers 2, Robert W. Taylor 2 and Anton Vila-Sanjurjo 7 1 Institute of Medical Sciences, Ninewells Hospital and Medical School, Dundee University, Dundee DD19SY, Scotland, UK, 2 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, The Medical School, Newcastle upon Tyne NE2 4HH, UK, 3 Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK, 4 Centre for Human Metabonomics, North-West University, Potchefstroom, South Africa, 5 Newcastle University Centre for Brain Ageing and Vitality, Institute for Ageing and Health, Newcastle University, The Medical School, Newcastle upon Tyne NE2 4HH, UK, 6 Department of Pediatrics and the Institute for Genetic and Metabolic Disease (IGMD), Nijmegen Center for Mitochondrial Disorders (NCMD), Radboud University Medical Center, PO Box 9101, Nijmegen 6500 HB, The Netherlands and 7 Department of Quımica Fundamental, Facultade de Ciencias, Universidade da Coruna (UDC), 15071 A Coruna, Spain",
year = "2014",
doi = "10.1093/hmg/ddt490",
language = "English",
volume = "23",
pages = "949--967",
journal = "HUMAN MOLECULAR GENETICS ",
issn = "0964-6906",
number = "4",
}