Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency

Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency

<p>Abstract</p> <p>Succinic semialdehyde dehydrogenase (SSADH; aldehyde dehydrogenase 5A1 [ALDH5A1]; locus 6p22) occupies a central position in central nervous system (CNS) neurotransmitter metabolism as one of two enzymes necessary for <it>γ</it>-aminobutyric acid (GAB...

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Bibliographic Details
Main Authors: Malaspina Patrizia, Picklo Matthew J, Jakobs C, Snead O Carter, Gibson K Michael
Format: Article
Language:English
Published: BMC 2009-01-01
Series:Human Genomics
Subjects:
GABA
GHB
succinic semialdehyde dehydrogenase deficiency
aldehyde dehydrogenase 5A1
chromosome 6p22
<it>Aldh5a1</it><sup>-/- </sup>mouse model
alternative splicing
AKR7A2
polymorphic variation
quantitative traits
Online Access:http://www.humgenomics.com/content/3/2/106

Internet

http://www.humgenomics.com/content/3/2/106

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