Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy. [electronic resource]
Producer: 20151215Description: 473-80 p. digitalISSN:- 1476-5438
- Alleles
- Asian People -- genetics
- Color Vision Defects -- genetics
- Computational Biology
- Consanguinity
- Cyclic Nucleotide-Gated Cation Channels -- genetics
- Electroretinography
- Genetic Variation
- Genome-Wide Association Study
- HEK293 Cells
- Haplotypes
- Homozygote
- Humans
- Leber Congenital Amaurosis -- genetics
- Mutation, Missense
- Pakistan
- Phenotype
- Retinal Cone Photoreceptor Cells -- pathology
- Retinitis Pigmentosa -- genetics
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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