Mutation of ATF6 causes autosomal recessive achromatopsia. [electronic resource]
Producer: 20151028Description: 941-50 p. digitalISSN:- 1432-1203
- Activating Transcription Factor 6 -- genetics
- Adolescent
- Animals
- Asian People -- genetics
- Color Vision Defects -- genetics
- Consanguinity
- DNA Mutational Analysis
- Exome
- Female
- Frameshift Mutation
- Genotyping Techniques
- Homozygote
- Humans
- Limit of Detection
- Male
- Mice
- Mice, Inbred C57BL
- Pakistan
- Pedigree
- Phenotype
- Retina -- physiopathology
- Signal Transduction
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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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