Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference57 articles.
1. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness;al Jandal;Hum Mutat,1999
2. Genotype-phenotype correlation in British families with X linked congenital stationary night blindness;Allen;Br J Ophthalmol,2003
3. Application of a fluorometric method to measure glutamate release from single retinal photoreceptors;Ayoub;J Neurosci Methods,1991
4. Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23;Bech-Hansen;Hum Genet,1998
5. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness;Bech-Hansen;Nat Genet,2000
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