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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.

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Description scientific article
Author/s

author: Marie-Elise Lancelot  Elise Orhan  Aline Antonio  Christelle Michiels  Thierry Léveillard  Olivier Goureau  Isabelle Audo  Florian Sennlaub  Xavier Guillonneau  José-Alain Sahel  Saddek Mohand-Saïd  Michel Paques  Kinga Bujakowska  Said El Shamieh  Christina Zeitz 

Publication date September 10, 2013
Language English
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