Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

PURPOSE: To assess the potential of next-generation sequencing (NGS) technologies to characterize cases diagnosed with autosomal recessive (ar) or sporadic (s) macular dystrophies (ar/sMD) and describe their mutational spectrum. METHODS: A cohort of 1036 families was classified according to their su...

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Detalles Bibliográficos
Autores principales: Del Pozo-Valero, Marta, Riveiro-Alvarez, Rosa, Martin-Merida, Inmaculada, Blanco-Kelly, Fiona, Swafiri, Saoud, Lorda-Sanchez, Isabel, Trujillo-Tiebas, Maria José, Carreño, Ester, Jimenez-Rolando, Belen, Garcia-Sandoval, Blanca, Corton, Marta, Avila-Fernandez, Almudena, Ayuso, Carmen
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/PMC8819279/
https://www.ncbi.nlm.nih.gov/pubmed/35119454
http://dx.doi.org/10.1167/iovs.63.2.11

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8819279/
https://www.ncbi.nlm.nih.gov/pubmed/35119454
http://dx.doi.org/10.1167/iovs.63.2.11

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