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Article

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

Genes - 16 Apr 2021

Fernández-Alcalde Celia, Nieves-Moreno María, Noval Susana, Peralta Jesús M, Montaño Victoria E F, Del Pozo Ángela, Santos-Simarro Fernando, Vallespín Elena

Abstract excerpt

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 was analyzed implementing a panel (OFTv2.1) including 39 known congenital cataracts disease genes. 62 probands from...

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Identifiers

PMID: 33923544
DOI: 10.3390/genes12040580
PMCID: PMC8072554

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