MERTK mutation update in inherited retinal diseases

Author:

Audo Isabelle123ORCID,Mohand-Said Saddek12,Boulanger-Scemama Elise14,Zanlonghi Xavier5,Condroyer Christel1,Démontant Vanessa1,Boyard Fiona1,Antonio Aline1,Méjécase Cécile1ORCID,El Shamieh Said16ORCID,Sahel José-Alain12347ORCID,Zeitz Christina1ORCID

Affiliation:

1. Sorbonne Université; INSERM; CNRS; Institut de la Vision; Paris France

2. CHNO des Quinze-Vingts; DHU Sight Restore; INSERM-DGOS CIC1423 Paris France

3. University College London Institute of Ophthalmology; London UK

4. Fondation Ophtalmologique Adolphe de Rothschild; Paris France

5. Clinique Pluridisciplinaire Jules Verne; Nantes France

6. Department of Medical Laboratory Technology; Faculty of Health Sciences; Beirut Arab University; Beirut Lebanon

7. Académie des Sciences-Institut de France; Paris France. Department of Ophthalmology; University of Pittsburgh Medical School; Pittsburgh Pennsylvania

Funder

Fondation Voir et Entendre

Agence Nationale de la Recherche

Foundation Fighting Blindness

Ministère de l'Enseignement Supérieur et de la Recherche

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference92 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

2. Increased expression of MERTK is associated with a unique form of canine retinopathy;Ahonen;Plos One,2014

3. Molecular characterization of retinitis pigmentosa in Saudi Arabia;Aldahmesh;Molecular Vision,2009

4. A novel MERTK mutation causing retinitis pigmentosa;Al-Khersan;Graefes Archive for Clinical and Experimental Ophthalmology,2017

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

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