Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis

K Mayer, MA (Miriam) Goedbloed, K van Zijl, Mark Nellist, H-D Rott

Research output: Contribution to journalArticleAcademicpeer-review

40 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)64-65
Number of pages2
JournalJournal of Medical Genetics
Publication statusPublished - 2004

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