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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...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1792773206

Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases

About this item

Full title

Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases

Publisher

United States: Public Library of Science

Journal title

PloS one, 2016-05, Vol.11 (5), p.e0156252-e0156252

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

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...

Alternative Titles

Full title

Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1792773206

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1792773206

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0156252

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