Conflict of interest: None
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family
Article first published online: 4 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 1915–1922, August 2013
How to Cite
2013. A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. Am J Med Genet Part A. 161A:1915–1922., , , , , , , , , , , .
- Issue published online: 24 JUL 2013
- Article first published online: 4 JUL 2013
- Manuscript Accepted: 15 APR 2013
- Manuscript Received: 18 JUL 2012
- Iranian National Science Foundation and the Max Planck Innovation Fund
Additional supporting information may be found in the online version of this article at the publisher's web-site.
|ajmga36030-sm-0001-SuppFig-S1.tif||169K||FIG. S1. Partial amino acid sequence alignment of the human SSADH protein and its homologues in the animal, plant and fungi kingdom. The position of the missense mutation is indicated by an arrow. The respective amino acid is identical in the 13 proteins.|
|ajmga36030-sm-0002-SuppFig-S2.tif||576K||FIG. S2. Overview of Lys301 (green) and NAD+ binding site (yellow) in stick representation. The ADP moiety of a NAD+ molecule is shown in orange.|
|ajmga36030-sm-0003-SuppTab-S1.doc||39K||TABLE SI. Primers used for amplification of ALDH5A1.|
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