Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma...
Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases
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United States: Public Library of Science
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Language
English
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United States: Public Library of Science
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Glaucoma, the leading cause of irreversible blindness, appears in various forms. Mutations in CYP1B1 result in primary congenital glaucoma (PCG) by an autosomal recessive mode of inheritance while it acts as a modifier locus for primary open angle glaucoma (POAG). We investigated the molecular basis of the variable phenotypes resulting from the def...
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Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases
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TN_cdi_plos_journals_1792773206
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1792773206
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0156252