Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families

Our purpose was to identify mutations responsible for non-syndromic congenital cataracts through the implementation of next-generation sequencing (NGS) in our center. A sample of peripheral blood was obtained from probands and willing family members and genomic DNA was extracted from leukocytes. DNA...

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Detalles Bibliográficos
Autores principales: Fernández-Alcalde, Celia, Nieves-Moreno, María, Noval, Susana, Peralta, Jesús M., Montaño, Victoria E. F., del Pozo, Ángela, Santos-Simarro, Fernando, Vallespín, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8072554/
https://www.ncbi.nlm.nih.gov/pubmed/33923544
http://dx.doi.org/10.3390/genes12040580

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8072554/
https://www.ncbi.nlm.nih.gov/pubmed/33923544
http://dx.doi.org/10.3390/genes12040580

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