Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

od Morino, Hiroyuki, Pierce, Sarah B., Matsuda, Yukiko, Walsh, Tom, Ohsawa, Ryosuke, Newby, Marta, Hiraki-Kamon, Keiko, Kuramochi, Masahito, Lee, Ming K., Klevit, Rachel E., Martin, Alan, Maruyama, Hirofumi, King, Mary-Claire, Kawakami, Hideshi
Izdano u Neurology (2014)