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 ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Léveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Saïd S, Bhattacharya SS, Sahel JA, Zeitz C.
Audo I, et al. Among authors: goureau o.
Hum Mol Genet. 2014 Jan 15;23(2):491-501. doi: 10.1093/hmg/ddt439. Epub 2013 Sep 10.
Hum Mol Genet. 2014.
PMID: 24026677