A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

RJP Smeets, JAM Smeitink, BA Semmekrot, Jasper Scholte, RJA Wanders, LPWJ van den Heuvel

Research output: Contribution to journalArticleAcademicpeer-review

23 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)8-13
Number of pages6
JournalJournal of Human Genetics
Publication statusPublished - 2003

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