11384588

Source:http://linkedlifedata.com/resource/pubmed/id/11384588

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0442038, umls-concept:C1260959, umls-concept:C1527180, umls-concept:C1832173
pubmed:issue	6
pubmed:dateCreated	2001-5-31
pubmed:abstractText	To report a new North American family with dominant radial drusen and Arg345Trp mutation in the EFEMP1 gene.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0370500
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/EFEMP1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Extracellular Matrix Proteins
pubmed:status	MEDLINE
pubmed:month	Jun
pubmed:issn	0002-9394
pubmed:author	pubmed-author:MatsumotoMM, pubmed-author:TraboulsiE IEI
pubmed:issnType	Print
pubmed:volume	131
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	810-2
pubmed:dateRevised	2006-11-15
pubmed:meshHeading	pubmed-meshheading:11384588-Adult, pubmed-meshheading:11384588-Amino Acid Sequence, pubmed-meshheading:11384588-Extracellular Matrix Proteins, pubmed-meshheading:11384588-Female, pubmed-meshheading:11384588-Genes, Dominant, pubmed-meshheading:11384588-Humans, pubmed-meshheading:11384588-Male, pubmed-meshheading:11384588-Middle Aged, pubmed-meshheading:11384588-Mutation, pubmed-meshheading:11384588-Pedigree, pubmed-meshheading:11384588-Retinal Drusen
pubmed:year	2001
pubmed:articleTitle	Dominant radial drusen and Arg345Trp EFEMP1 mutation.
pubmed:affiliation	Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't