Linked Life Data

11292414

Source:http://linkedlifedata.com/resource/pubmed/id/11292414

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2001-4-9
pubmed:abstractText
We report an abnormal electroretinogram with a negative configuration in a child who presented with moderate myopia, nystagmus, and visual developmental delay. We investigated the electroretinogram and explored the possibility of a metabotropic glutamate receptor subtype 6 mutation in six family members spanning four generations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0002-9394
pubmed:author
pubmed:issnType
Print
pubmed:volume
131
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
495-502
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed-meshheading:11292414-Adult, pubmed-meshheading:11292414-Child, Preschool, pubmed-meshheading:11292414-DNA Mutational Analysis, pubmed-meshheading:11292414-DNA Primers, pubmed-meshheading:11292414-Dark Adaptation, pubmed-meshheading:11292414-Electroretinography, pubmed-meshheading:11292414-Female, pubmed-meshheading:11292414-Genes, Dominant, pubmed-meshheading:11292414-Humans, pubmed-meshheading:11292414-Infant, pubmed-meshheading:11292414-Interneurons, pubmed-meshheading:11292414-Male, pubmed-meshheading:11292414-Middle Aged, pubmed-meshheading:11292414-Myopia, pubmed-meshheading:11292414-Neural Inhibition, pubmed-meshheading:11292414-Nystagmus, Pathologic, pubmed-meshheading:11292414-Pedigree, pubmed-meshheading:11292414-Phenotype, pubmed-meshheading:11292414-Receptors, Metabotropic Glutamate, pubmed-meshheading:11292414-Retina, pubmed-meshheading:11292414-Synaptic Transmission, pubmed-meshheading:11292414-Vision Disorders, pubmed-meshheading:11292414-Visual Fields
pubmed:year
2001
pubmed:articleTitle
Autosomal dominant inheritance of a negative electroretinogram phenotype in three generations.
pubmed:affiliation
Vision Science Laboratory, The Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri 64108-9898, USA. kfitzgeral@cmh.edu
pubmed:publicationType
Journal Article, Case Reports