Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference8 articles.
1. Retinitis pigmentosa;Hartong;Lancet,2006
2. Rod cyclic nucleotide-gated channels have a stoichiometry of three CNGA1 subunits and one CNGB1 subunit;Zheng;Neuron,2002
3. Cyclic nucleotide-gated ion channels;Kaupp;Physiol Rev,2002
4. Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations;Bocquet;Mol Vis,2013
5. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa;Bareil;Hum Genet,2001
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