Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder caused by mutations in the NF2 gene. Patients carrying NF2 mutations are predisposed to cerebral and spinal tumors with bilateral vestibular schwannomas as the hallmark. Using single strand conformation polymorphism and temperature gra
Phenotypic variability in two families with novel splice-site and frameshiftNF2mutations
โ Scribed by V.-F. Mautner; M. E. Baser; Lan Kluwe
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 41 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0340-6717
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