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

TitleCharacterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis.
Publication TypeJournal Article
Year of Publication2004
AuthorsMayer K, Goedbloed M, van Zijl K, Nellist M, Rott H-D
JournalJournal of medical genetics
Volume41
Issue5
Paginatione64
Date Published2004 May
Alternate JournalJ. Med. Genet.