Linked Life Data

9678418

Source:http://linkedlifedata.com/resource/pubmed/id/9678418

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
1998-9-25
pubmed:abstractText
To characterize the effect on mRNA splicing of a yet undescribed mutation located in intron 13 splice-donor sequence (IVS13 + 3A --> C) in the Rab-Escort-protein 1 gene of a patient with choroideremia.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0271-3683
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
726-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:9678418-Adaptor Proteins, Signal Transducing, pubmed-meshheading:9678418-Adult, pubmed-meshheading:9678418-Alkyl and Aryl Transferases, pubmed-meshheading:9678418-Base Sequence, pubmed-meshheading:9678418-Carrier Proteins, pubmed-meshheading:9678418-Choroideremia, pubmed-meshheading:9678418-Consensus Sequence, pubmed-meshheading:9678418-DNA, Recombinant, pubmed-meshheading:9678418-Exons, pubmed-meshheading:9678418-Fluorescein Angiography, pubmed-meshheading:9678418-Humans, pubmed-meshheading:9678418-Male, pubmed-meshheading:9678418-Mutation, pubmed-meshheading:9678418-Polymerase Chain Reaction, pubmed-meshheading:9678418-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:9678418-RNA, Messenger, pubmed-meshheading:9678418-Transcription, Genetic, pubmed-meshheading:9678418-rab GTP-Binding Proteins
pubmed:year
1998
pubmed:articleTitle
Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene.
pubmed:affiliation
Laboratoire de Biochimie Génétique, CNRS ERS 155, Institut de Biologie, Montpellier, France.
pubmed:publicationType
Journal Article, Case Reports