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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 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: sahel ja. 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
[Retinal grafts: biological problems and clinical stakes].
Sahel JA, Hicks D, Mohand-Said S, Tran Minh D, Deudon-Combe A, Silverman M, Dreyfus H. Sahel JA, et al. Bull Acad Natl Med. 1996 Mar;180(3):633-43; discussion 643-4. Bull Acad Natl Med. 1996. PMID: 8766244 Review. French.
688 results