Article
Mutations in the CACNA1F and NYX genes in British CSNBX families.
Human mutation - 1 Feb 2003
Zito Ilaria, Allen Louise E, Patel Reshma J, Meindl Alfons, Bradshaw Keith, Yates John R, Bird Alan C, Erskine Lynda, Cheetham Michael E, Webster Andrew R, Poopalasundaram Subathra, Moore Anthony T, Trump Dorothy, Hardcastle Alison J
Abstract excerpt
X-linked congenital stationary night blindness (CSNBX) is a genetically and phenotypically heterogeneous non-progressive disorder, characterised by impaired night vision but grossly normal retinal appearance. Other more variable features include reduction in visual acuity, myopia, nystagmus and strabismus. Genetic mapping studies by other groups, and our own studies of British patients, identified key...
Topics
- Calcium Channels
- Calcium Channels, L-Type
- DNA Mutational Analysis
- Exons
- Female
- Founder Effect
- Genetic Diseases, X-Linked
- Humans
- Leukocytes
- Male
- Mutation
- Night Blindness
- Pedigree