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17601449
Source:
http://linkedlifedata.com/resource/pubmed/id/17601449
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0019425
,
umls-concept:C0205182
,
umls-concept:C0205198
,
umls-concept:C0205314
,
umls-concept:C0547040
,
umls-concept:C0679622
,
umls-concept:C1417832
,
umls-concept:C1849394
pubmed:issue
1
pubmed:dateCreated
2007-7-2
pubmed:abstractText
To report mild enhanced s-cone syndrome (ESCS) associated with a novel heterozygous mutation of the NR2E3 gene.
pubmed:grant
http://linkedlifedata.com/resource/pubmed/grant/P30-EY014801
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0370500
pubmed:citationSubset
AIM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/NR2E3 protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Orphan Nuclear Receptors
,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Cytoplasmic and Nuclear
,
http://linkedlifedata.com/resource/pubmed/chemical/Rod Opsins
,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
,
http://linkedlifedata.com/resource/pubmed/chemical/short-wavelength opsin
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0002-9394
pubmed:author
pubmed-author:GoldbergJeffrey LJL
,
pubmed-author:HartleyKristen LKL
,
pubmed-author:LamByron LBL
,
pubmed-author:LiuMuM
,
pubmed-author:StoneEdwin MEM
pubmed:issnType
Print
pubmed:volume
144
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
157-9
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:17601449-Child
,
pubmed-meshheading:17601449-Choroidal Neovascularization
,
pubmed-meshheading:17601449-Electroretinography
,
pubmed-meshheading:17601449-Female
,
pubmed-meshheading:17601449-Heterozygote
,
pubmed-meshheading:17601449-Humans
,
pubmed-meshheading:17601449-Models, Molecular
,
pubmed-meshheading:17601449-Mutation
,
pubmed-meshheading:17601449-Orphan Nuclear Receptors
,
pubmed-meshheading:17601449-Photic Stimulation
,
pubmed-meshheading:17601449-Polymerase Chain Reaction
,
pubmed-meshheading:17601449-Receptors, Cytoplasmic and Nuclear
,
pubmed-meshheading:17601449-Retinal Cone Photoreceptor Cells
,
pubmed-meshheading:17601449-Retinal Degeneration
,
pubmed-meshheading:17601449-Rod Opsins
,
pubmed-meshheading:17601449-Syndrome
,
pubmed-meshheading:17601449-Tomography, Optical Coherence
,
pubmed-meshheading:17601449-Transcription Factors
,
pubmed-meshheading:17601449-Visual Acuity
pubmed:year
2007
pubmed:articleTitle
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene.
pubmed:affiliation
Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida 33136, USA. blam@med.miami.edu
pubmed:publicationType
Journal Article
,
Case Reports
,
Research Support, Non-U.S. Gov't
,
Research Support, N.I.H., Extramural