Mutation of SALL2 causes recessive ocular coloboma in humans and mice. [electronic resource]
Producer: 20141203Description: 2511-26 p. digitalISSN:- 1460-2083
- Adolescent
- Animals
- Child
- Codon, Nonsense
- Coloboma -- genetics
- Consanguinity
- DNA Mutational Analysis
- DNA-Binding Proteins
- Eye -- embryology
- Eye Proteins -- genetics
- Female
- Gene Expression
- Genes, Recessive
- Genetic Association Studies
- Genetic Predisposition to Disease
- HEK293 Cells
- Homeodomain Proteins -- genetics
- Homozygote
- Humans
- Male
- Mice, Inbred C57BL
- Mice, Knockout
- PAX2 Transcription Factor -- genetics
- PAX6 Transcription Factor
- Paired Box Transcription Factors -- genetics
- Pedigree
- Polymorphism, Single Nucleotide
- Repressor Proteins -- genetics
- Transcription Factors -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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