Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors
Author:
Affiliation:
1. Institute of Genetics and Molecular and Cellular Biology (IGBMC)
2. Centre National de la Recherche Scientifique, UMR7104
3. Institut National de la Santé et de la Recherche Médicale, U1254
4. University of Strasbourg, Illkirch, 67000, France
Funder
Agence Nationale de la Recherche
frame programme Investissements d’Avenir
Fondation pour la Recherche Médicale
Association Rétina-France
Association Connaître les
Laboratory of Excellence
PhD fellowship
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/28/6/912/28011070/ddy401.pdf
Reference81 articles.
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2. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7);David;Hum. Mol. Genet.,1998
3. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy;Michalik;Eur. J. Hum. Genet.,2004
4. A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7;Velazquez-Perez;Neurogenetics,2015
5. Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families;Enevoldson;Brain,1994
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