Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy
COHEN, LIOR, TZUR, SHAY, GOLDENBERG-COHEN, NITZA, BORMANS, CONCETTA, BEHAR, DORON M., REINSTEIN, EYALVolume:
98
Year:
2016
Language:
english
Journal:
Genetics Research
DOI:
10.1017/S0016672316000070
File:
PDF, 112 KB
english, 2016