12671462

Source:http://linkedlifedata.com/resource/pubmed/id/12671462

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0031437, umls-concept:C0181586, umls-concept:C0241888, umls-concept:C0596611, umls-concept:C1417573
pubmed:issue	2
pubmed:dateCreated	2003-4-2
pubmed:abstractText	To report a family with a myocilin (MYOC) gene mutation ascertained on the basis of the phenotype of the 71-year-old proband with juvenile-onset primary open-angle glaucoma (JOAG).
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9300903
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Cytoskeletal Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Glycoproteins, http://linkedlifedata.com/resource/pubmed/chemical/trabecular meshwork-induced...
pubmed:status	MEDLINE
pubmed:month	Apr
pubmed:issn	1057-0829
pubmed:author	pubmed-author:DownsCatherine ACA, pubmed-author:HigashiMisaoM, pubmed-author:LichterPaul RPR, pubmed-author:LimPaulineP, pubmed-author:RichardsJulia EJE
pubmed:issnType	Print
pubmed:volume	12
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	98-103
pubmed:dateRevised	2006-11-3
pubmed:meshHeading	pubmed-meshheading:12671462-Adolescent, pubmed-meshheading:12671462-Aged, pubmed-meshheading:12671462-Cytoskeletal Proteins, pubmed-meshheading:12671462-DNA Mutational Analysis, pubmed-meshheading:12671462-Exons, pubmed-meshheading:12671462-Eye Proteins, pubmed-meshheading:12671462-Female, pubmed-meshheading:12671462-Filtering Surgery, pubmed-meshheading:12671462-Genotype, pubmed-meshheading:12671462-Glaucoma, Open-Angle, pubmed-meshheading:12671462-Glycoproteins, pubmed-meshheading:12671462-Humans, pubmed-meshheading:12671462-Intraocular Pressure, pubmed-meshheading:12671462-Iris, pubmed-meshheading:12671462-Lens Implantation, Intraocular, pubmed-meshheading:12671462-Male, pubmed-meshheading:12671462-Middle Aged, pubmed-meshheading:12671462-Pedigree, pubmed-meshheading:12671462-Phacoemulsification, pubmed-meshheading:12671462-Phenotype, pubmed-meshheading:12671462-Point Mutation, pubmed-meshheading:12671462-Polymerase Chain Reaction
pubmed:year	2003
pubmed:articleTitle	Septuagenarian's phenotype leads to ascertainment of familial MYOC gene mutation.
pubmed:affiliation	University of Michigan Medical School, Ann Arbor, Michigan, USA.
pubmed:publicationType	Journal Article, Case Reports