Ansar, Muhammad
Mutation of ATF6 causes autosomal recessive achromatopsia. [electronic resource]
- Human genetics Sep 2015
- 941-50 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1432-1203
10.1007/s00439-015-1571-4 doi
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