Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Uusimaa J., Evans J., Smith C., Butterworth A., Craig K., Ashley N., Liao C., Carver J., Diot A., Macleod L., Hargreaves I., Al-Hussaini A., Faqeih E., Asery A., Al Balwi M., Eyaid W., Al-Sunaid A., Kelly D., van Mourik I., Ball S., Jarvis J., Mulay A., Hadzic N., Samyn M., Baker A., Rahman S., Stewart H., Morris AAM., Seller A., Fratter C., Taylor RW., Poulton J.

DOI

10.1038/ejhg.2013.112

Type

Journal article

Journal

European Journal of Human Genetics

Publisher

Springer Science and Business Media LLC

Publication Date

02/2014

Volume

22

Pages

184 - 191

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