What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

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  《Brain》 |2012年第12期|p.3614-3626|共13页
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  Vivienne C. M. Neeve1 David C. Samuels23 Laurence A. Bindoff45 Bianca van den Bosch6 Gert Van Goethem789 Hubert Smeets6 Anne Lombès1011 Claude Jardel1011 Michio Hirano12 Salvatore DiMauro12 Maaike De Vries13 Jan Smeitink13 Bart W. Smits14 Ireneus F. M. de Coo15 Carsten Saft16 Thomas Klopstock17 Bianca-Cortina Keiling18 Birgit Czermin18 Angela Abicht18 Hanns Lochmüller1 Gavin Hudson1 Grainne G. Gorman19 Doug M. Turnbull19 Robert W. Taylor19 Elke Holinski-Feder18 Patrick F. Chinnery119* and Rita H;

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• 作者单位

  1 Institute of Genetic Medicine, Newcastle University, NE1 3BZ Newcastle upon Tyne, UK 2 Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Centre, TN 37232, Nashville, USA 3 Centre for Human Genetics Research, Vanderbilt University Medical Centre, TN 37232, Nashville, USA 4 Department of Clinical Medicine, University of Bergen, N-5020 Bergen, Norway 5 Department of Neurology, Haukeland University Hospital, N-5021 Bergen, Norway 6 Unit Clinical Genomics, Department of Clinical Genetics, Maastricht University Medical Centre, 6200 MD Maastricht, The Netherlands 7 Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, 2610 Antwerpen, Belgium 8 Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, 2610 Wilrijk, Belgium 9 Division of Neurology, University Hospital Antwerp, 2650 Edegem, Belgium 10 INSERM, UMRS 1016,;

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