Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene en functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

S Akaboshi, Boris Hogema, A Novelletto, P Malaspina, GS Salamons, GD Maropoulos, C Jakobs, M Grompe, KM Gibson

Research output: Contribution to journalArticleAcademicpeer-review

96 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)442-450
Number of pages9
JournalHuman Mutation
Volume22
DOIs
Publication statusPublished - 2003

Cite this