Article
Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis.
Neurogenetics - 1 Apr 1999
Jacoby L B, MacCollin M, Parry D M, Kluwe L, Lynch J, Jones D, Gusella J F
Abstract excerpt
Neurofibromatosis type 2 (NF2) is a genetic disorder characterized by formation of multiple schwannomas and meningiomas due to inactivating mutations in the NF2 tumor suppressor gene on chromosome 22. We describe a polymorphism in the 3' untranslated region of the NF2 gene that is informative in about one-third of individuals. This polymorphism permitted an assessment of the relative expression of NF2 transcripts...
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