11535458

Source:http://linkedlifedata.com/resource/pubmed/id/11535458

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0017601, umls-concept:C0026882, umls-concept:C0242960, umls-concept:C0332120, umls-concept:C1514623, umls-concept:C1516451, umls-concept:C1842028
pubmed:issue	9
pubmed:dateCreated	2001-9-5
pubmed:abstractText	To investigate the phenotype and age-related penetrance of primary open-angle glaucoma (POAG) in Australian families with the most common Myocilin mutation (Gln368STOP).
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/R01 EY10564-02
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7802443
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense, http://linkedlifedata.com/resource/pubmed/chemical/Cytoskeletal Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Glutamine, http://linkedlifedata.com/resource/pubmed/chemical/Glycoproteins, http://linkedlifedata.com/resource/pubmed/chemical/trabecular meshwork-induced...
pubmed:status	MEDLINE
pubmed:month	Sep
pubmed:issn	0161-6420
pubmed:author	pubmed-author:BairdP NPN, pubmed-author:CraigJ EJE, pubmed-author:DickinsonJ LJL, pubmed-author:FingertJ HJH, pubmed-author:HealeyD LDL, pubmed-author:MackenD LDL, pubmed-author:McCartneyP JPJ, pubmed-author:McNaughtA IAI, pubmed-author:RaitJ LJL, pubmed-author:RoeLL, pubmed-author:StoneE MEM
pubmed:issnType	Print
pubmed:volume	108
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1607-20
pubmed:dateRevised	2011-11-17
pubmed:meshHeading	pubmed-meshheading:11535458-Adult, pubmed-meshheading:11535458-Aged, pubmed-meshheading:11535458-Aged, 80 and over, pubmed-meshheading:11535458-Codon, Nonsense, pubmed-meshheading:11535458-Cross-Sectional Studies, pubmed-meshheading:11535458-Cytoskeletal Proteins, pubmed-meshheading:11535458-DNA Mutational Analysis, pubmed-meshheading:11535458-Effect Modifier, Epidemiologic, pubmed-meshheading:11535458-Eye Proteins, pubmed-meshheading:11535458-Female, pubmed-meshheading:11535458-Genetic Heterogeneity, pubmed-meshheading:11535458-Glaucoma, Open-Angle, pubmed-meshheading:11535458-Glutamine, pubmed-meshheading:11535458-Glycoproteins, pubmed-meshheading:11535458-Heterozygote Detection, pubmed-meshheading:11535458-Humans, pubmed-meshheading:11535458-Intraocular Pressure, pubmed-meshheading:11535458-Male, pubmed-meshheading:11535458-Middle Aged, pubmed-meshheading:11535458-Optic Disk, pubmed-meshheading:11535458-Pedigree, pubmed-meshheading:11535458-Phenotype, pubmed-meshheading:11535458-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:11535458-Tasmania, pubmed-meshheading:11535458-Visual Fields
pubmed:year	2001
pubmed:articleTitle	Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.
pubmed:affiliation	Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia.
pubmed:publicationType	Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't