Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials

PURPOSE: We aimed to establish correlations between the clinical features of a cohort of Usher syndrome (USH) patients with pathogenic variants in MYO7A, type of pathogenic variant, and location on the protein domain. METHODS: Sixty‐two USH patients from 46 families with biallelic variants in MYO7A...

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Detalles Bibliográficos
Autores principales: Galbis‐Martínez, Lilián, Blanco‐Kelly, Fiona, García‐García, Gema, Ávila‐Fernández, Almudena, Jaijo, Teresa, Fuster‐García, Carla, Perea‐Romero, Irene, Zurita‐Muñoz, Olga, Jimenez‐Rolando, Belén, Carreño, Ester, García‐Sandoval, Blanca, Millán, José M., Ayuso, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9540557/
https://www.ncbi.nlm.nih.gov/pubmed/33576163
http://dx.doi.org/10.1111/aos.14795

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