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Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.
Mol Genet Metab. 2002 Aug;76(4):348-62. doi: 10.1016/s1096-7192(02)00105-1.
Mol Genet Metab. 2002.
PMID: 12208142
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
Akaboshi S, Hogema BM, Novelletto A, Malaspina P, Salomons GS, Maropoulos GD, Jakobs C, Grompe M, Gibson KM.
Akaboshi S, et al.
Hum Mutat. 2003 Dec;22(6):442-50. doi: 10.1002/humu.10288.
Hum Mutat. 2003.
PMID: 14635103
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