18978954

Source:http://linkedlifedata.com/resource/pubmed/id/18978954

Download in:

Switch to

Custom View

Named Graph Language Inference

Statements in which the resource exists as a subject.
Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015127, umls-concept:C0035304, umls-concept:C0037081, umls-concept:C0441748, umls-concept:C0525021, umls-concept:C0599155, umls-concept:C1314792, umls-concept:C1538439
pubmed:dateCreated	2008-11-3
pubmed:abstractText	To investigate the genetic basis of autosomal recessive retinal degeneration in a large consanguineous family from Pakistan.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/073477, http://linkedlifedata.com/resource/pubmed/grant/G0501050
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-10391212, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-11000483, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-11790298, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-11956206, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-12015282, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-12876833, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-14681825, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-15557452, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-15661356, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-15708351, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-16123401, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-16581028, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-16637830, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-17279538, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-17519961, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-18055789, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-18191655, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-18515597, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-6585139, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-9507394, http://linkedlifedata.com/resource/pubmed/commentcorrection/18978954-9660588
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Localization Signals, http://linkedlifedata.com/resource/pubmed/chemical/Phosphotransferases (Alcohol Group..., http://linkedlifedata.com/resource/pubmed/chemical/ceramide kinase
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:DancigerMichaelM, pubmed-author:HüppiG AGA, pubmed-author:InglehearnChris FCF, pubmed-author:JafriHussainH, pubmed-author:KumaramanickavelGovindasamyG, pubmed-author:McKibbinMartinM, pubmed-author:MohamedMoin DMD, pubmed-author:RamprasadVedam LakshmiVL, pubmed-author:RashidYasminY, pubmed-author:SoumittraNagasamyN
pubmed:issnType	Electronic
pubmed:volume	14
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1960-4
pubmed:dateRevised	2009-11-18
pubmed:meshHeading	pubmed-meshheading:18978954-Amino Acid Sequence, pubmed-meshheading:18978954-Base Sequence, pubmed-meshheading:18978954-Conserved Sequence, pubmed-meshheading:18978954-DNA Mutational Analysis, pubmed-meshheading:18978954-Female, pubmed-meshheading:18978954-Genes, Recessive, pubmed-meshheading:18978954-Humans, pubmed-meshheading:18978954-Male, pubmed-meshheading:18978954-Molecular Sequence Data, pubmed-meshheading:18978954-Mutation, Missense, pubmed-meshheading:18978954-Nuclear Localization Signals, pubmed-meshheading:18978954-Pedigree, pubmed-meshheading:18978954-Phosphotransferases (Alcohol Group Acceptor), pubmed-meshheading:18978954-Retinal Degeneration
pubmed:year	2008
pubmed:articleTitle	A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.
pubmed:affiliation	Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, St. James's University Hospital, Leeds, United Kingdom. medma@leeds.ac.uk
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't