Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. [electronic resource]
Producer: 20121113Description: 1558-71 p. digitalISSN:- 1090-0535
- Adolescent
- Adult
- Alcohol Oxidoreductases -- genetics
- Asian People -- genetics
- Base Sequence
- Child
- Chromosomes, Human, Pair 12 -- genetics
- Consanguinity
- Eye Diseases, Hereditary
- Female
- Fundus Oculi
- Genetic Diseases, X-Linked
- Genome-Wide Association Study
- Genotype
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation, Missense -- genetics
- Myopia -- genetics
- Night Blindness -- genetics
- Pakistan
- Pedigree
- Polymorphism, Single Nucleotide
- Sequence Deletion -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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