Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa-Reference-Cited by-同舟云学术

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Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa

Published:2023-07-01 Issue:13-14 Volume:34 Page:639-648
ISSN:1043-0342
Container-title:Human Gene Therapy
language:en
Short-container-title:Human Gene Therapy

Author:

Feathers Kecia L.¹,Jia Lin¹,Khan Naheed W.¹,Smith Alexander J.²,Ma Jian-Xing³,Ali Robin R.²,Thompson Debra A.⁴^ORCID

Affiliation:

1. Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, USA.

2. Centre for Stem Cells & Regenerative Medicine, King's College London, London, United Kingdom.

3. Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

4. Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan, USA.

Publisher

Mary Ann Liebert Inc

Subject

Genetics,Molecular Biology,Molecular Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/hum.2022.240

Reference35 articles.

1. Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

2. Mutations in RPE65 cause Leber's congenital amaurosis

3. Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases

4. The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation ofRPE65and Differentiation from Leber Congenital Amaurosis

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