16319817

Source:http://linkedlifedata.com/resource/pubmed/id/16319817

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0024779, umls-concept:C0205419, umls-concept:C0332281, umls-concept:C0376315, umls-concept:C0728938, umls-concept:C1306122, umls-concept:C1335620, umls-concept:C1442161, umls-concept:C1520555
pubmed:dateCreated	2005-12-1
pubmed:abstractText	The purpose of this paper is to map the locus for a variant form of Oguchi disease in a Pakistani family and to identify the causative mutation.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/G-Protein-Coupled Receptor Kinase 1, http://linkedlifedata.com/resource/pubmed/chemical/GRK1 protein, human
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:CarusoRaphaelR, pubmed-author:HejtmancikJ FieldingJF, pubmed-author:RiazuddinS AmerSA, pubmed-author:RiazuddinSheikhS, pubmed-author:RoganPeter KPK, pubmed-author:SievingPaul APA, pubmed-author:XiaoXueshanX, pubmed-author:YasmeenAfshanA, pubmed-author:ZhangQingjiongQ, pubmed-author:ZulfiqarFareehaF
pubmed:issnType	Electronic
pubmed:volume	11
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	977-85
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:16319817-Adolescent, pubmed-meshheading:16319817-Adult, pubmed-meshheading:16319817-Chromosome Mapping, pubmed-meshheading:16319817-Chromosomes, Human, Pair 13, pubmed-meshheading:16319817-Consanguinity, pubmed-meshheading:16319817-Dark Adaptation, pubmed-meshheading:16319817-Electroretinography, pubmed-meshheading:16319817-Exons, pubmed-meshheading:16319817-Female, pubmed-meshheading:16319817-G-Protein-Coupled Receptor Kinase 1, pubmed-meshheading:16319817-Gene Deletion, pubmed-meshheading:16319817-Genetic Linkage, pubmed-meshheading:16319817-Humans, pubmed-meshheading:16319817-Lod Score, pubmed-meshheading:16319817-Male, pubmed-meshheading:16319817-Night Blindness, pubmed-meshheading:16319817-Pakistan, pubmed-meshheading:16319817-Pedigree, pubmed-meshheading:16319817-Polymerase Chain Reaction, pubmed-meshheading:16319817-Retina, pubmed-meshheading:16319817-Retinal Diseases
pubmed:year	2005
pubmed:articleTitle	A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.
pubmed:affiliation	Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892-1860, USA. zhang-q@gzsums.edu.cn
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't