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Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency
Authors:N. Gregersen  B. S. Andresen  P. Bross  V. Winter  N. Rüdiger  S. Engst  S. Ghisla  E. Christensen  D. Kelly  A. W. Strauss  S. Kølvraa  L. Bolund  A. Blakemore  D. Curtis  P. Engel
Affiliation:(1) Molecular Genetic Laboratory, University Department of Clinical Chemistry, Aarhus Kommunehospital and Skejby Sygehus, 8200 Aarhus N, Denmark;(2) Faculty of Biology, University of Konstanz, 7760 Konstanz, Germany;(3) Section of Clinical Genetics, University Department of Paediatrics and of Gynaecology and Obstetrics, Rigshospitalet, 2100 Copenhagen Ø, Denmark;(4) Department of Pediatrics, Washington University School of Medicine, 63110 St Louis, Missouri, USA;(5) Institute of Human Genetics, University of Aarhus, 8000 Aarhus C, Denmark;(6) Department of Molecular Biology and Biotechnology, The University of Sheffield, S10 2TN Sheffield, UK
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