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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2010-1-5
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pubmed:abstractText |
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 associated with the disease in a large cohort of German patients with POAG.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1552-5783
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
51
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
249-54
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:19643970-Adolescent,
pubmed-meshheading:19643970-Adult,
pubmed-meshheading:19643970-Aged,
pubmed-meshheading:19643970-Aged, 80 and over,
pubmed-meshheading:19643970-Aryl Hydrocarbon Hydroxylases,
pubmed-meshheading:19643970-Cytochrome P-450 Enzyme System,
pubmed-meshheading:19643970-DNA Mutational Analysis,
pubmed-meshheading:19643970-Female,
pubmed-meshheading:19643970-Glaucoma, Open-Angle,
pubmed-meshheading:19643970-Humans,
pubmed-meshheading:19643970-Intraocular Pressure,
pubmed-meshheading:19643970-Male,
pubmed-meshheading:19643970-Middle Aged,
pubmed-meshheading:19643970-Mutation,
pubmed-meshheading:19643970-Plasmids,
pubmed-meshheading:19643970-Risk Factors,
pubmed-meshheading:19643970-Tonometry, Ocular,
pubmed-meshheading:19643970-Visual Acuity
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pubmed:year |
2010
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pubmed:articleTitle |
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
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pubmed:affiliation |
Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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