Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice

Author:

Abu-Diab Alaa1,Gopalakrishnan Prakadeeswari1,Matsevich Chen1,de Jong Marije2,Obolensky Alexey1,Khalaileh Ayat1,Salameh Manar1,Ejzenberg Ayala1,Gross Menachem2,Banin Eyal1,Sharon Dror1,Khateb Samer1

Affiliation:

1. Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel

2. Department of Otolaryngology, Head and Neck Surgery, Hadassah Hebrew-University Medical Center, Jerusalem, Israel

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

Ophthalmology,Biomedical Engineering

Reference31 articles.

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2. Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations;Sharon;Mol Vis,2015

3. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans;Khateb;Genet Med,2018

4. Usher syndrome: hearing loss, retinal degeneration and associated abnormalities;Mathur;Biochim Biophys Acta,2015

5. A frameshift mutation in SANS results in atypical Usher syndrome;Bashir;Clin Genet,2010

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