Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1

M. Milh, A. Pop, W. Kanhai, N. Villeneuve, A. Cano, E.A. Struijs, G.S. Salomons, B. Chabrol, C.A.J.M. Jakobs

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Scopus)
Original languageEnglish
Pages (from-to)684-686
JournalMolecular Genetics and Metabolism
Volume105
Issue number4
DOIs
Publication statusPublished - 2012

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