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Identifying mutations in Tunisian families with retinal dystrophy

Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subjected to IROme analysis or whole exome sequen...

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Bibliografiske detaljer
Udgivet i:	Sci Rep
Main Authors:	Habibi, Imen, Chebil, Ahmed, Falfoul, Yosra, Allaman-Pillet, Nathalie, Kort, Fedra, Schorderet, Daniel F., El Matri, Leila
Format:	Artigo
Sprog:	Inglês
Udgivet:	Nature Publishing Group 2016
Fag:	Article
Online adgang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC5118704/ https://ncbi.nlm.nih.gov/pubmed/27874104 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep37455
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Lignende værker

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