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...
Main Authors: | Celia Fernández-Alcalde, María Nieves-Moreno, Susana Noval, Jesús M. Peralta, Victoria E. F. Montaño, Ángela del Pozo, Fernando Santos-Simarro, Elena Vallespín |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-04-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/12/4/580 |
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