15914606

Source:http://linkedlifedata.com/resource/pubmed/id/15914606

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0016781, umls-concept:C0026882, umls-concept:C0205314, umls-concept:C0449560, umls-concept:C0679622, umls-concept:C0728826, umls-concept:C1413594, umls-concept:C1833334
pubmed:issue	6
pubmed:dateCreated	2005-5-25
pubmed:abstractText	To characterize the genetic basis and phenotype of inherited Fuchs corneal dystrophy (FCD).
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7703701
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/COL8A2 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Collagen Type VIII
pubmed:status	MEDLINE
pubmed:month	Jun
pubmed:issn	0146-0404
pubmed:author	pubmed-author:BromanKarl WKW, pubmed-author:GottschJohn DJD, pubmed-author:JunAlbert SAS, pubmed-author:LiuSammy HSH, pubmed-author:MagovernMalcolmM, pubmed-author:NarangAmol KAK, pubmed-author:StarkWalter JWJ, pubmed-author:SundinOlof HOH, pubmed-author:ThompsonJohn MJM, pubmed-author:VitoElizabeth C LEC
pubmed:issnType	Print
pubmed:volume	46
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1934-9
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:15914606-Adolescent, pubmed-meshheading:15914606-Adult, pubmed-meshheading:15914606-Aged, pubmed-meshheading:15914606-Aged, 80 and over, pubmed-meshheading:15914606-Child, pubmed-meshheading:15914606-Child, Preschool, pubmed-meshheading:15914606-Chromosomes, Human, Pair 1, pubmed-meshheading:15914606-Collagen Type VIII, pubmed-meshheading:15914606-DNA Mutational Analysis, pubmed-meshheading:15914606-Female, pubmed-meshheading:15914606-Fuchs' Endothelial Dystrophy, pubmed-meshheading:15914606-Genetic Linkage, pubmed-meshheading:15914606-Genotype, pubmed-meshheading:15914606-Humans, pubmed-meshheading:15914606-Inheritance Patterns, pubmed-meshheading:15914606-Male, pubmed-meshheading:15914606-Microscopy, Confocal, pubmed-meshheading:15914606-Middle Aged, pubmed-meshheading:15914606-Mutation, pubmed-meshheading:15914606-Pedigree, pubmed-meshheading:15914606-Phenotype
pubmed:year	2005
pubmed:articleTitle	Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.
pubmed:affiliation	Center for Corneal Genetics, Cornea and External Disease Service, The Wilmer Eye Institute, John Hopkins University School of Medicine, Baltimore, MD 21287, USA. jgottsch@jhmi.edu
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't