Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes

PURPOSE: Blue cone monochromacy (BCM) is an X-linked retinopathy caused by mutations in the red and green cone opsin genes. The aim of this study was to establish the clinical, genetic, and electrophysiological characteristics of a specific form of BCM. METHODS: Patients harboring mutations in the O...

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Detalles Bibliográficos
Autores principales: Khateb, Samer, Shemesh, Aya, Offenheim, Ashly, Sheffer, Ruth, Ben-Yosef, Tamar, Chowers, Itay, Leibu, Rina, Baumann, Britta, Wissinger, Bernd, Kohl, Susanne, Banin, Eyal, Sharon, Dror
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8942453/
https://www.ncbi.nlm.nih.gov/pubmed/35400991

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8942453/
https://www.ncbi.nlm.nih.gov/pubmed/35400991

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