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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
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 |
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