New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family

PURPOSE: To report that variants in the gene for a large lamina basal component protein, COL6A6 (collagen type VI alpha 6 chain, Col6α6), linked to chromosome 3p22.1 causes retinitis pigmentosa (RP) in patients with autosomal dominant transmission (adRP). METHODS: A positional-cloning approach, whol...

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Detalles Bibliográficos
Autores principales: Vaclavik, Veronika, Tiab, Leila, Sun, Young Joo, Mahajan, Vinit B., Moulin, Alexandre, Allaman-Pillet, Nathalie, Munier, Francis L., Schorderet, Daniel F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8963667/
https://www.ncbi.nlm.nih.gov/pubmed/35333290
http://dx.doi.org/10.1167/iovs.63.3.23

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8963667/
https://www.ncbi.nlm.nih.gov/pubmed/35333290
http://dx.doi.org/10.1167/iovs.63.3.23

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