Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations

Mutations in the cytochrome P450 1B1 (CYP1B1) gene are a frequent cause of primary congenital glaucoma (PCG) in different ethnic groups. Cytochrome P450 proteins are monooxygenases, which catalyze many reactions involved in the metabolism of drugs as well as steroids and other lipids. The repeated o...

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Veröffentlicht in:	Molecular vision 2006-05, Vol.12, p.523-531
Hauptverfasser:	Chavarria-Soley, Gabriela, Michels-Rautenstrauss, Karin, Pasutto, Francesca, Flikier, David, Flikier, Paul, Cirak, Sebahattin, Bejjani, Bassem, Winters, Daniel L, Lewis, Richard A, Mardin, Christian, Reis, Andre, Rautenstrauss, Bernd
Format:	Artikel
Sprache:	eng
Schlagworte:	Anterior Eye Segment - abnormalities Aryl Hydrocarbon Hydroxylases - genetics Base Sequence Cytochrome P-450 CYP1B1 Eye Abnormalities - genetics Founder Effect Glaucoma - congenital Glaucoma - genetics Haplotypes Humans Microsatellite Repeats Mutation
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