Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. [electronic resource]
Producer: 20090923Description: 240-7 p. digitalISSN:- 1537-6605
- Base Sequence
- Case-Control Studies
- Chromosome Mapping
- Chromosomes, Human, Pair 10
- Color Vision Defects -- genetics
- Consanguinity
- Cyclic Nucleotide Phosphodiesterases, Type 6 -- genetics
- Electroretinography
- Eye Proteins -- genetics
- Female
- Frameshift Mutation
- Genes, Recessive
- Genome-Wide Association Study
- Homozygote
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Mutation, Missense
- Pedigree
- Polymorphism, Single Nucleotide
- Retinal Cone Photoreceptor Cells -- enzymology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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