Article
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.
Human molecular genetics - 15 Jan 2014
Audo Isabelle, Bujakowska Kinga, Orhan Elise, El Shamieh Said, Sennlaub Florian, Guillonneau Xavier, Antonio Aline, Michiels Christelle, Lancelot Marie-Elise, Letexier Melanie, Saraiva Jean-Paul, Nguyen Hoan, Luu Tien D, Léveillard Thierry, Poch Olivier, Dollfus Hélène, Paques Michel, Goureau Olivier, Mohand-Saïd Saddek, Bhattacharya Shomi S, Sahel José-Alain, Zeitz Christina
Abstract excerpt
Inherited retinal diseases are a group of clinically and genetically heterogeneous disorders for which a significant number of cases remain genetically unresolved. Increasing knowledge on underlying pathogenic mechanisms with precise phenotype-genotype correlation is, however, critical for establishing novel therapeutic interventions for these yet incurable neurodegenerative conditions. We report phenotypic and...
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