CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients

Autor:	Carlos Faro, Conceição Egas, Marisa Simões, G. Wainwright, Susana Carmona, R. Roberts, Eduardo Silva
Rok vydání:	2016
Předmět:	0301 basic medicine Male Pediatrics medicine.medical_specialty genetic structures CYP1B1 DNA Mutational Analysis macromolecular substances Disease Cohort Studies 03 medical and health sciences 0302 clinical medicine Gene Frequency Medicine Humans Genetics (clinical) Intraocular Pressure Portugal business.industry Primary congenital glaucoma Hydrophthalmos Infant eye diseases language.human_language body regions Ophthalmology 030104 developmental biology Pediatrics Perinatology and Child Health Cohort Cytochrome P-450 CYP1B1 Mutation 030221 ophthalmology & optometry language Female sense organs Portuguese business High intraocular pressure
Zdroj:	Ophthalmic genetics. 38(2)
ISSN:	1744-5094
Popis:	Primary congenital glaucoma (PCG) is a rare and severe autosomal recessive disease, characterized by high intraocular pressure during the neonatal or early infantile period. If undetected and timel...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::309073909df3e8a88bcfe01559c41707 https://pubmed.ncbi.nlm.nih.gov/27268095 Zobrazit plný text záznamu