Ontology highlight
ABSTRACT:
SUBMITTER: MacCollin M
PROVIDER: S-EPMC1918355 | biostudies-other | 1994 Aug
REPOSITORIES: biostudies-other
MacCollin M M Ramesh V V Jacoby L B LB Louis D N DN Rubio M P MP Pulaski K K Trofatter J A JA Short M P MP Bove C C Eldridge R R
American journal of human genetics 19940801 2
Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of multiple nervous-system tumors in young adulthood. The NF2 gene has recently been isolated and found to encode a new member of the protein 4.1 family of cytoskeletal associated proteins, which we have named merlin. To define the molecular basis of NF2 in affected individuals, we have used SSCP analysis to scan the exons of the NF2 gene from 33 unrelated patients with NF2. Twenty unique SSCP variants were seen in ...[more]