Publication
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene
Johanna Uusimaa, Julie Evans, Conrad Smith, Anna Butterworth, Kate Craig, Neil Ashley, Chunyan Liao, Janet Carver, Alan Diot, Lorna Macleod, Iain Hargreaves, Abdulrahman Al-Hussaini, Eissa Faqeih, Ali Asery, Mohammed Al Balwi, Wafaa Eyaid, Areej Al-Sunaid, Deirdre Kelly, Indra van Mourik, Sarah Ball, Joanna Jarvis, Arundhati Mulay, Nedim Hadzic, Marianne Samyn, Alastair Baker, Shamima Rahman, Helen Stewart, Andrew AM Morris, Anneke Seller, Carl Fratter, Robert W Taylor, Joanna Poulton
European Journal of Human Genetics, May 2013, Springer Science + Business Media
DOI: 10.1038/ejhg.2013.112