Publication Date:
2013-05-30
Description:
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene European Journal of Human Genetics advance online publication, May 29 2013. doi:10.1038/ejhg.2013.112 Authors: 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
Keywords:
MPV17mitochondrial DNA depletionhepatocerebral diseaseneonatal liver disease
Print ISSN:
1018-4813
Electronic ISSN:
1476-5438
Topics:
Biology
,
Medicine
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