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Titel :  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 the cellular level.
Artikel/Poster :  Artikel
Forfatter :  Stenbroen Winter, Vibeke
Funktion/Stilling :  Afdelingsbioanalytiker
Forfatter type :  3.,4.,...
Funktion/Stilling :  Afdelingsbioanalytiker
Institution :  Århus Universitetshospital, Skejby
Afdeling :  Molekylær Madicinsk Forskningsenhed
Tidsskrift :  Human genetics
Eksakt / unik placering i tidsskrift :  2008 Aug;124(1):43-56. Epub 2008 Jun 4.
År :  2008
Link til artikel :  www.ncbi.nlm.nih.gov/pubmed/18523805
Keyword :  Biogenesis, Variation spectrum, genotype-Phenotype, EMA, Aggregation