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Studies from Genetics Laboratory Reveal New Findings on Aniridia (Mutational and Clinical Spectrum of the Pax6 Gene In Bulgarian Patients With Aniridia).

Source :
Genomics & Genetics Weekly; 12/6/2024, p2409-2409, 1p
Publication Year :
2024

Abstract

Researchers in Sofia, Bulgaria, conducted a study on the mutational and clinical spectrum of the Pax6 gene in Bulgarian patients with Aniridia, a congenital eye abnormality. The study identified various pathogenic variants and mutations in the PAX6 gene, confirming the heterogeneous nature of Aniridia and the variable spectrum of PAX6 mutations. The research concluded that the small number of polymorphic variants in controls supports the highly conserved role and nature of the PAX6 gene. This peer-reviewed study provides valuable insights into the genetic basis of Aniridia in the Bulgarian population. [Extracted from the article]

Details

Language :
English
ISSN :
15316467
Database :
Complementary Index
Journal :
Genomics & Genetics Weekly
Publication Type :
Periodical
Accession number :
181136645