Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
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
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0002-9394
pubmed:author
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