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-Reference-Cited by-同舟云学术

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

Published:2013-09-10 Issue:2 Volume:23 Page:491-501
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

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

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/23/2/491/14141720/ddt439.pdf

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5. Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases;Audo;Orphanet. J. Rare Dis.,2012

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