Article
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
Nature genetics - 1 Jul 1998
Bech-Hansen N T, Naylor M J, Maybaum T A, Pearce W G, Koop B, Fishman G A, Mets M, Musarella M A, Boycott K M
Abstract excerpt
X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. Two distinct clinical entities of X-linked CSNB have been proposed. Patients with complete CSNB show m...
Topics
- Amino Acid Sequence
- Base Sequence
- Calcium Channels
- Calcium Channels, L-Type
- DNA, Complementary
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Night Blindness
- Pedigree
- Tissue Distribution
- X Chromosome