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The Journal of clinical investigation 103 (10), R39-R43, 1999
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The American Journal of Human Genetics 70 (5), 1328-1332, 2002
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The American Journal of Human Genetics 64 (2), 479-494, 1999
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Human mutation 14 (3), 186-198, 1999
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The American Journal of Human Genetics 68 (6), 1408-1418, 2001
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The American Journal of Human Genetics 83 (1), 30-42, 2008
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Human mutation 18 (3), 169-189, 2001
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Human genetics 112 (1), 71-77, 2003
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Human molecular genetics 7 (4), 619-627, 1998
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Protein misfolding and cellular stress in disease and aging, 3-23, 2010
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Journal of inherited metabolic disease 31 (5), 643-657, 2008
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Human molecular genetics 6 (5), 695-707, 1997
|Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different …|
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Human molecular genetics 5 (4), 461-472, 1996
|Characterization of wild-type and an active site mutant of human medium chain acyl-CoA dehydrogenase after expression in Escherichia coli.|
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Journal of Biological Chemistry 265 (13), 7116-7119, 1990
|Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase|
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Pediatric research 39 (6), 1059-1066, 1996
|The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at …|
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Human genetics 124 (1), 43-56, 2008
|Influence of Lewis α1-3/4-L-fucosyltransferase (FUT3) gene mutations on enzyme activity, erythrocyte phenotyping, and circulating tumor marker sialyl-Lewis a levels|
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