Shinjiro Akaboshi and Boris M. Hogema contributed equally to this work.
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency†
Article first published online: 10 NOV 2003
Copyright © 2003 Wiley-Liss, Inc.
Volume 22, Issue 6, pages 442–450, December 2003
How to Cite
Akaboshi, S., Hogema, B. M., Novelletto, A., Malaspina, P., Salomons, G. S., Maropoulos, G. D., Jakobs, C., Grompe, M. and Gibson, K. M. (2003), Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum. Mutat., 22: 442–450. doi: 10.1002/humu.10288
Communicated by Johannes Zschocke
- Issue published online: 10 NOV 2003
- Article first published online: 10 NOV 2003
- Manuscript Accepted: 24 JUN 2003
- Manuscript Received: 30 JAN 2003
- Telethon Onlus Italia. Grant Number: E.818
- NIH. Grant Number: NS 40270
- March of Dimes National Birth Defects Foundation. Grant Number: 1-FY00-352
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