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Characterization of a disease‐causing Lys329 to Glu mutation in 16 patients with medium‐chain Acyl‐CoA dehydrogenase deficiency
Author(s) -
Gregersen N.,
Andresen B. S.,
Bross P.,
Winter V.,
Rüdiger N.,
Engst S.,
Ghisla S.,
Christensen E.,
Kelly D.,
Strauss A. W.,
Kølvraa S.,
Bolund L.,
Blakemore A.,
Curtis D.,
Engel P.
Publication year - 1991
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01811691
Subject(s) - biochemistry , university hospital , medicine , family medicine , pediatrics
N. GRE~E~SEN 1, B. S. ANDRESEN 1, P. BROSS z, V. WINTER 1, N. Rt?DIGER 1, S. ENGST 2, S. GHISLA 2, E. CHRISTENSEN 3, O. KELLY 4, A. W. STRAUSS 4, S. KOLVRAA 5, L. BOLUND 5, A. BLAKEMORE 6, D. CURTIS 6 and P. ENGEL 6 t Molecular Genetic Laboratory, University Department of Clinical Chemistry, Aarhus Kommunehospital and Skejby Sygehus, 8200 Aarhus N, Denmark; 2Faculty of Biology, University of Konstanz, 7760 Konstanz, Germany; 3Section of Clinical Genetics, University Department of Paediatrics and of Gynaecology and Obstetrics, Rigshospitalet, 2100 Copenhagen O, Denmark; 4Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA; 5Institute of Human Genetics, University of Aarhus, 8000 Aarhus C, Denmark; 6Department of Molecular Biology and Biotechnology, The University of Sheffield, Sheffield $10 2TN, UK