Article
DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.
JAMA - 17 Nov 1993
MacCollin M, Mohney T, Trofatter J, Wertelecki W, Ramesh V, Gusella J
Abstract excerpt
OBJECTIVE: To define the DNA mutation causing neurofibromatosis 2 (NF2), a severe genetic disorder involving the development of multiple nervous system tumors in adulthood, in a large, well-studied NF2 pedigree previously used to chromosomally map and to isolate the disease gene. DESIGN: Single-s...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, Pair 22
- DNA, Neoplasm
- Deoxyribonucleases, Type II Site-Specific
- Female
- Genes, Neurofibromatosis 2
- Genes, Tumor Suppressor
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Neoplasm Proteins
- Neurofibromatosis 2
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Prenatal Diagnosis