Functional validation of the albinism-associated tyrosinase T373K SNP by CRISPR/Cas9-mediated homology-directed repair (HDR) in rabbits

BACKGROUND: Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by reduced melanin that are caused by mutations in the gene encoding tyrosinase (TYR), which is the rate-limiting enzyme in the production of the pigment melanin. Many studies or meta-analyses have su...

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Detalhes bibliográficos
Publicado no:EBioMedicine
Main Authors: Song, Yuning, Zhang, Yuxin, Chen, Mao, Deng, Jichao, Sui, Tingting, Lai, Liangxue, Li, Zhanjun
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
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Research paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6197749/
https://ncbi.nlm.nih.gov/pubmed/30274819
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebiom.2018.09.041
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