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A rad50 germline mutation induces the ataxia-telangiectasia phenotype in a transparent medaka model

2022-09-29

Abstract excerpt

Mutations in the MRN-ATM pathway-related genes cause MRN-related diseases and ataxia-telangiectasia. However, the effect of RAD50 mutations on these diseases remains unclear. To understand the function of RAD50 in the pathogenesis of ataxia-telangiectasia, we adopted a medaka rad50 mutant model. A two-base deletion in the rad50 gene was introduced into transparent STIII medaka using the CRISPR/Cas9 system. Results...

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Literature Corpus work
beadaf3d-8356-5ff7-a51f-052099dc7240
DOI
10.21203/rs.3.rs-2103020/v1
Open publication

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A rad50 germline mutation induces the ataxia-telangiectasia phenotype in a transparent medaka modelDOI 10.21203/rs.3.rs-2103020/v1
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