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Overview of molecular findings of genome-sequenced patients with achromatopsia

Journal: Genetics in Medicine Open

Article Title: A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD

doi: 10.1016/j.gimo.2024.101843

Figure Lengend Snippet: Overview of molecular findings of genome-sequenced patients with achromatopsia

Article Snippet: To confirm the break-point sequence of CNGA3 Alu insertion, PCR-amplified target region was subcloned into pMD20 by TA-cloning (Mighty TA-cloning Reagent Set for PrimeSTAR, TAKARA) and Sanger sequenced.

Techniques: Variant Assay

Current ocular diseases being examined for use of gene therapy.

Journal: Eye

Article Title: Genetic engineering and the eye

doi: 10.1038/s41433-024-03441-2

Figure Lengend Snippet: Current ocular diseases being examined for use of gene therapy.

Article Snippet: Inherited Retinal Diseases , Achromatopsia , AAV - CNGB3 or AAV - CNGA3 , NCT03278873 , 1/2 , MeiraGTx UK II Ltd.

Techniques: Plasmid Preparation, Bioprocessing, Injection, Western Blot, Targeted Proteomics

Current ocular diseases being examined for use of gene therapy.

Journal: Eye

Article Title: Genetic engineering and the eye

doi: 10.1038/s41433-024-03441-2

Figure Lengend Snippet: Current ocular diseases being examined for use of gene therapy.

Article Snippet: , , AAV- CNGA3 , NCT03758404 , 1/2 , MeiraGTx UK II Ltd.

Techniques: Plasmid Preparation, Bioprocessing, Injection, Western Blot, Targeted Proteomics