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Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.
Medina-Trillo Cristina, Ferre-Fernández Jesús-José, Aroca-Aguilar José-Daniel, Bonet-Fernández Juan-Manuel, Escribano Julio
Acta OphthalmolApr 20169 citationsBasic Science
Studying CYP1B1 variants in congenital glaucoma, researchers found six were null and two hypomorphic. This confirms that very low or absent CYP1B1 activity is the primary cause of this severe eye disease.