Open Access Research article

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype

Tuomas Komulainen, Reetta Hinttala, Mikko Kärppä, Leila Pajunen, Saara Finnilä, Hannu Tuominen, Heikki Rantala, Ilmo Hassinen, Kari Majamaa* and Johanna Uusimaa

BMC Neurology 2010, 10:29 doi:10.1186/1471-2377-10-29

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