A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

Molecular Genetics and Metabolism - Tập 79 - Trang 124-128 - 2003
Marcus Deschauer1,2, Zofia M.A Chrzanowska-Lightowlers2, Eckhard Biekmann3, Morteza Pourfarzam2, Robert W Taylor2, Douglass M Turnbull2, Stephan Zierz1
1Department of Neurology, Martin-Luther-University of Halle-Wittenberg, Ernst-Grube-Str. 40, 06097 Halle/Saale, Germany
2Departments of Neurology and Child Health, The Medical School, Framlington Place, University of Newcastle upon Tyne, NE2 4HH, UK
3Department of Internal Medicine, Evangelisches Krankenhaus Herne, Teaching Hospital University of Bochum, Wieschestr. 24, 44602 Herne, Germany

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Molecular Genetics and Metabolism

Tập 79

124-128

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