A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients

PURPOSE: Although most (or even all) genes that can cause achromatopsia (ACHM) when mutated are known, some patients are still negative for mutations even after screening the coding sequence of all known genes. Our aim was to characterize the genetic and clinical aspects of a deep intronic (c.1663–1...

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Detalles Bibliográficos
Autores principales: Aweidah, Hamzah, Salameh, Manar, Yahalom, Claudia, Blumenfeld, Anat, Macarov, Michal, Weisschuh, Nicole, Kohl, Susanne, Banin, Eyal, Sharon, Dror
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8477987/
https://www.ncbi.nlm.nih.gov/pubmed/34703197

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