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

Title
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
Authors
Keywords
-
Journal
HUMAN GENETICS
Volume 124, Issue 1, Pages 43-56
Publisher
Springer Nature
Online
2008-06-03
DOI
10.1007/s00439-008-0521-9

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