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

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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Bibliographic Details
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
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Genes
Subjects:
congenital cataracts
genetics
next-generation sequencing
ophthalmogenetics
Online Access:https://www.mdpi.com/2073-4425/12/4/580

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https://www.mdpi.com/2073-4425/12/4/580

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