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Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms

Homeodomain transcription factors (HD TFs) are instrumental to vertebrate development. Mutations in HD TFs have been linked to human diseases, but their pathogenic mechanisms remain elusive. Here we use Cone-Rod Homeobox (CRX) as a model to decipher the disease-causing mechanisms of two HD mutations...

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Detalles Bibliográficos
Autores principales: Zheng, Yiqiao, Sun, Chi, Zhang, Xiaodong, Ruzycki, Philip A., Chen, Shiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915647/
https://www.ncbi.nlm.nih.gov/pubmed/36778408
http://dx.doi.org/10.1101/2023.02.01.526652