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Article

Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.

Acta ophthalmologica - 1 Nov 2016

Medina-Trillo Cristina, Ferre-Fernández Jesús-José, Aroca-Aguilar José-Daniel, Bonet-Fernández Juan-Manuel, Escribano Julio

Abstract excerpt

PURPOSE: To evaluate the function of eight missense CYP1B1 single nucleotide variants (SNVs) previously identified in patients with primary congenital glaucoma (PCG). METHODS: The eight variants were obtained by site-directed mutagenesis and transiently expressed in human embryonic kidney 293-T (HEK-293T) cells. The catalytic activity, protein stability and subcellular localization of the different recombinant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophoresis, Polyacrylamide Gel

Share to Fluorescent Antibody Technique, Indirect

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Identifiers

PMID: 27060699
DOI: 10.1111/aos.13017

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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