Molecular Genetics of Primary Congenital Glaucoma in Brazil

To determine the distribution of CYP1B1 gene mutations in Brazilian patients with primary congenital glaucoma (PCG). PCG diagnosis was established by presence of buphthalmos in at least one affected eye and associated high intraocular pressures before the age of 3 years. CYP1B1 mutation screening of...

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Veröffentlicht in:	Investigative ophthalmology & visual science 2002-06, Vol.43 (6), p.1820-1827
Hauptverfasser:	Stoilov, Ivaylo R, Costa, Vital P, Vasconcellos, Jose P. C, Melo, Monica B, Betinjane, Alberto J, Carani, Jose C. E, Oltrogge, Ernst V, Sarfarazi, Mansoor
Format:	Artikel
Sprache:	eng
Schlagworte:	Aryl Hydrocarbon Hydroxylases Biological and medical sciences Brazil Child, Preschool Cytochrome P-450 CYP1B1 Cytochrome P-450 Enzyme System - genetics DNA Mutational Analysis DNA Primers - chemistry Glaucoma - congenital Glaucoma - enzymology Glaucoma - ethnology Glaucoma and intraocular pressure Haplotypes Humans Infant Infant, Newborn Intraocular Pressure Medical sciences Molecular Biology Mutation Ophthalmology Polymerase Chain Reaction Polymorphism, Single Nucleotide Polymorphism, Single-Stranded Conformational Retinopathies Visual Acuity
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