TY  - GEN
AU  - Ansar,Muhammad
AU  - Santos-Cortez,Regie Lyn P
AU  - Saqib,Muhammad Arif Nadeem
AU  - Zulfiqar,Fareeha
AU  - Lee,Kwanghyuk
AU  - Ashraf,Naeem Mahmood
AU  - Ullah,Ehsan
AU  - Wang,Xin
AU  - Sajid,Sundus
AU  - Khan,Falak Sher
AU  - Amin-ud-Din,Muhammad
AU  - Smith,Joshua D
AU  - Shendure,Jay
AU  - Bamshad,Michael J
AU  - Nickerson,Deborah A
AU  - Hameed,Abdul
AU  - Riazuddin,Saima
AU  - Ahmed,Zubair M
AU  - Ahmad,Wasim
AU  - Leal,Suzanne M
TI  - Mutation of ATF6 causes autosomal recessive achromatopsia
SN  - 1432-1203
PY  - 2015///1028
KW  - Activating Transcription Factor 6
KW  - genetics
KW  - Adolescent
KW  - Animals
KW  - Asian People
KW  - Color Vision Defects
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Exome
KW  - Female
KW  - Frameshift Mutation
KW  - Genotyping Techniques
KW  - Homozygote
KW  - Humans
KW  - Limit of Detection
KW  - Male
KW  - Mice
KW  - Mice, Inbred C57BL
KW  - Pakistan
KW  - Pedigree
KW  - Phenotype
KW  - Retina
KW  - physiopathology
KW  - Signal Transduction
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00439-015-1571-4
ER  -