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The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family
Audo, I., Bujakowska, K., Orhan, E., El Shamieh, S., Sennlaub, F., Guillonneau, X., Antonio, A., Michiels, C., Lancelot, M.-E., Letexier, M., Saraiva, J.-P., Nguyen, H., Luu, T. D., Leveillard, T., PoVolume:
23
Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddt439
Date:
January, 2014
File:
PDF, 967 KB
english, 2014