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1-5 of 5 results for CEP290 mutations

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Retricted access

Research article

First published 2016-5

Retinal degeneration mimicking cerebral visual impairment in a young child with CEP290 mutations: Case report

Lea VM Hyvärinen

British Journal of Visual Impairment

Retricted access

Research article

First published 2016-1

Leber Congenital Amaurosis: First Genotyped Hungarian Patients and Report of 2 Novel Mutations in the CRB1 and CEP290 Genes

Rita Vámos, Maigi Külm, Viktoria Szabó [...]

European Journal of Ophthalmology

Retricted access

Research article

First published 2015-5

Two Novel Mutations in the C-Terminal Region of Centrosomal Protein 290 ( CEP290 ) Result in Classic Joubert Syndrome

Lixia Wang, Yun Yang, Jieping Song [...]

Journal of Child Neurology

Open access

Research article

First published 2018-01

Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis

Wei Zhang, Linjing Li, Qin Su [...]

Human Gene Therapy

Open access

Review article

First published 2021-03

Genome-Editing Strategies for Treating Human Retinal Degenerations

Joel Quinn, Ayesha Musa, Ariel Kantor [...]

Human Gene Therapy