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Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma

Pasutto, F, Chavarria-Soley, G, Mardin, C Y, Michels-Rautenstrauss, K, Ingelman-Sundberg, M, Fernández-Martínez, L, Weber, Bernhard H. F. , Rautenstrauss, B and Reis, A (2010) Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Investigative ophthalmology and visual science 51 (1), pp. 249-254.

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Abstract

Purpose.: Although primary congenital glaucoma (PCG)–associated CYP1B1 mutations in the heterozygous state have been evaluated for association with primary open-angle glaucoma (POAG) in several small studies, their contribution to the occurrence of POAG is still controversial. The present study was conducted to determine whether heterozygous functionally characterized CYP1B1 mutations are ...

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Item type:Article
Date:2010
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
19643970PubMed ID
10.1167/iovs.09-3880DOI
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35834
Owner only: item control page

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