Article
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.
American journal of human genetics - 1 Aug 1996
Ruttledge M H, Andermann A A, Phelan C M, Claudio J O, Han F Y, Chretien N, Rangaratnam S, MacCollin M, Short P, Parry D, Michels V, Riccardi V M, Weksberg R, Kitamura K, Bradburn J M, Hall B D, Propping P, Rouleau G A
Abstract excerpt
The gene predisposing to neurofibromatosis type 2 (NF2) on human chromosome 22 has revealed a wide variety of different mutations in NF2 individuals. These patients display a marked variability in clinical presentation, ranging from very severe disease with numerous tumors at a young age to a rel...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- DNA Primers
- Female
- Genes, Neurofibromatosis 2
- Genetic Testing
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Neurofibromatosis 2