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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2007-9-25
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pubmed:abstractText |
Primary open angle glaucoma (POAG) is a genetically heterogeneous disease resulting in optic disc cupping and visual impairment. It can be inherited as either a complex or a monogenic trait. Autosomal dominant POAG is the most frequent type of monogenic glaucoma. In this study, we investigated the role of myocilin MYOC in Spanish patients with autosomal dominant 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:issn |
1090-0535
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
13
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1666-73
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pubmed:meshHeading |
pubmed-meshheading:17893668-Adolescent,
pubmed-meshheading:17893668-Adult,
pubmed-meshheading:17893668-Age of Onset,
pubmed-meshheading:17893668-Child,
pubmed-meshheading:17893668-Child, Preschool,
pubmed-meshheading:17893668-Colombia,
pubmed-meshheading:17893668-Cytoskeletal Proteins,
pubmed-meshheading:17893668-Eye Proteins,
pubmed-meshheading:17893668-Female,
pubmed-meshheading:17893668-Founder Effect,
pubmed-meshheading:17893668-Genes, Dominant,
pubmed-meshheading:17893668-Glaucoma, Open-Angle,
pubmed-meshheading:17893668-Glycoproteins,
pubmed-meshheading:17893668-Haplotypes,
pubmed-meshheading:17893668-Humans,
pubmed-meshheading:17893668-Leucine,
pubmed-meshheading:17893668-Male,
pubmed-meshheading:17893668-Middle Aged,
pubmed-meshheading:17893668-Mutation,
pubmed-meshheading:17893668-Pedigree,
pubmed-meshheading:17893668-Phenotype,
pubmed-meshheading:17893668-Proline,
pubmed-meshheading:17893668-Retrospective Studies,
pubmed-meshheading:17893668-Spain
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pubmed:year |
2007
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pubmed:articleTitle |
MYOC gene mutations in Spanish patients with autosomal dominant primary open-angle glaucoma: a founder effect in southeast Spain.
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pubmed:affiliation |
Servicio de Oftalmología, Hospital Virgen de los Lirios, Polígono de Caramanxel S/N, Alcoy (Alicante), Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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