CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma

Introduction: Primary open-angle glaucoma (POAG) is a leading cause of visual impairment worldwide and a complex genetic disorder that affects mostly adults. Mutations in the MYOCILIN (MYOC) and OPTINEURIN genes account for rare forms with a Mendelian inheritance and for

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of medical genetics 2004-09, Vol.41 (9), p.647-651
Hauptverfasser:	Melki, R, Colomb, E, Lefort, N, Brézin, A P, Garchon, H-J
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age of Onset Aged Aged, 80 and over Aryl Hydrocarbon Hydroxylases - genetics Biological and medical sciences Child Chromatography Classical genetics, quantitative genetics, hybrids CYP1B1 Cytochrome P-450 CYP1B1 denaturing high performance liquid chromatography DHPLC dimethylsulfoxide DMSO DNA Mutational Analysis Female France Fundamental and applied biological sciences. Psychology Genetic Testing Genetic Variation - genetics genetics Genetics of eukaryotes. Biological and molecular evolution Glaucoma Glaucoma and intraocular pressure Glaucoma, Open-Angle - genetics Glaucoma, Open-Angle - physiopathology Human Humans intraocular pressure IOP Male Medical sciences Middle Aged Mutation Mutation - genetics Ophthalmology Original PCG Pedigree POAG primary congenital glaucoma primary open-angle glaucoma screening TEAA triethylammonium acetate
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Beschreibung
Zusammenfassung:	Introduction: Primary open-angle glaucoma (POAG) is a leading cause of visual impairment worldwide and a complex genetic disorder that affects mostly adults. Mutations in the MYOCILIN (MYOC) and OPTINEURIN genes account for rare forms with a Mendelian inheritance and for
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.2004.020024