18695108

Source:http://linkedlifedata.com/resource/pubmed/id/18695108

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0031437, umls-concept:C0085756, umls-concept:C0596611, umls-concept:C1424915
pubmed:issue	8
pubmed:dateCreated	2008-8-12
pubmed:abstractText	To describe the phenotype and determine the genetic cause of autosomal dominant retinitis pigmentosa (adRP) in a large African American family.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/EY13435
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7706534
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins, http://linkedlifedata.com/resource/pubmed/chemical/PRPF8 protein, human
pubmed:status	MEDLINE
pubmed:month	Aug
pubmed:issn	1538-3601
pubmed:author	pubmed-author:AllikmetsRandoR, pubmed-author:FishmanGerald AGA, pubmed-author:RaimeKairiK, pubmed-author:WaliaSaloniS, pubmed-author:Zernant-RajangJanaJ
pubmed:issnType	Electronic
pubmed:volume	126
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1127-32
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:18695108-Adolescent, pubmed-meshheading:18695108-Adult, pubmed-meshheading:18695108-African Americans, pubmed-meshheading:18695108-Carrier Proteins, pubmed-meshheading:18695108-Child, pubmed-meshheading:18695108-Child, Preschool, pubmed-meshheading:18695108-Electroretinography, pubmed-meshheading:18695108-Female, pubmed-meshheading:18695108-Genes, Dominant, pubmed-meshheading:18695108-Humans, pubmed-meshheading:18695108-Male, pubmed-meshheading:18695108-Middle Aged, pubmed-meshheading:18695108-Mutation, Missense, pubmed-meshheading:18695108-Pedigree, pubmed-meshheading:18695108-Phenotype, pubmed-meshheading:18695108-Retinitis Pigmentosa, pubmed-meshheading:18695108-Tomography, Optical Coherence, pubmed-meshheading:18695108-Vision Disorders, pubmed-meshheading:18695108-Visual Acuity, pubmed-meshheading:18695108-Visual Field Tests, pubmed-meshheading:18695108-Visual Fields
pubmed:year	2008
pubmed:articleTitle	Phenotypic expression of a PRPF8 gene mutation in a Large African American family.
pubmed:affiliation	Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, USA.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural