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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2011-9-5
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pubmed:abstractText |
To determine the prevalence of CYP1B1 mutations in a cohort of patients with congenital corneal opacification (CCO), infantile glaucoma, or both and to describe a developmental CCO associated with CYP1B1 mutation that may explain von Hippel's original description of an internal ulcer.
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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 |
Sep
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pubmed:issn |
1549-4713
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pubmed:author |
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pubmed:copyrightInfo |
Copyright © 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
118
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1865-73
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pubmed:meshHeading |
pubmed-meshheading:21600657-Anterior Eye Segment,
pubmed-meshheading:21600657-Aryl Hydrocarbon Hydroxylases,
pubmed-meshheading:21600657-Consanguinity,
pubmed-meshheading:21600657-Corneal Opacity,
pubmed-meshheading:21600657-DNA Mutational Analysis,
pubmed-meshheading:21600657-Eye Abnormalities,
pubmed-meshheading:21600657-Female,
pubmed-meshheading:21600657-Genotype,
pubmed-meshheading:21600657-Humans,
pubmed-meshheading:21600657-Hydrophthalmos,
pubmed-meshheading:21600657-Infant,
pubmed-meshheading:21600657-Intraocular Pressure,
pubmed-meshheading:21600657-Keratoplasty, Penetrating,
pubmed-meshheading:21600657-Male,
pubmed-meshheading:21600657-Microscopy, Acoustic,
pubmed-meshheading:21600657-Mutation,
pubmed-meshheading:21600657-Pedigree,
pubmed-meshheading:21600657-Prevalence,
pubmed-meshheading:21600657-Retrospective Studies,
pubmed-meshheading:21600657-Reverse Transcriptase Polymerase Chain Reaction
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pubmed:year |
2011
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pubmed:articleTitle |
CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.
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pubmed:affiliation |
Ulverscroft Vision Research Group, University College London Institute of Child Health, London, and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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