Linked Life Data

14566650

Source:http://linkedlifedata.com/resource/pubmed/id/14566650

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2003-10-20
pubmed:abstractText
To perform genotype-phenotype correlations in a family with choroideremia.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1381-6810
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
203-14
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed-meshheading:14566650-Adaptor Proteins, Signal Transducing, pubmed-meshheading:14566650-Adolescent, pubmed-meshheading:14566650-Adult, pubmed-meshheading:14566650-Alkyl and Aryl Transferases, pubmed-meshheading:14566650-Child, pubmed-meshheading:14566650-Choroideremia, pubmed-meshheading:14566650-Chromosomes, Human, X, pubmed-meshheading:14566650-Electroretinography, pubmed-meshheading:14566650-Eye Proteins, pubmed-meshheading:14566650-Female, pubmed-meshheading:14566650-Fluorescein Angiography, pubmed-meshheading:14566650-Frameshift Mutation, pubmed-meshheading:14566650-Fundus Oculi, pubmed-meshheading:14566650-Genetic Variation, pubmed-meshheading:14566650-Heterozygote, pubmed-meshheading:14566650-Humans, pubmed-meshheading:14566650-Male, pubmed-meshheading:14566650-Pedigree, pubmed-meshheading:14566650-Phenotype, pubmed-meshheading:14566650-Polymerase Chain Reaction, pubmed-meshheading:14566650-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:14566650-Vision Disorders, pubmed-meshheading:14566650-Visual Acuity, pubmed-meshheading:14566650-Visual Fields, pubmed-meshheading:14566650-rab GTP-Binding Proteins
pubmed:year
2003
pubmed:articleTitle
Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene.
pubmed:affiliation
Kooperationsgruppe Ophthalmogenetik der LMU und GSF University Eye Hospital, LMU, München, Germany. Guenther.Rudolph@ak-i.med.uni-muenchen.de
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't