Linked Life Data

17093403

Source:http://linkedlifedata.com/resource/pubmed/id/17093403

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2006-11-9
pubmed:abstractText
To identify mutations in RPGR and RP2 genes in a series of Japanese retinitis pigmentosa (RP) families and to determine the association between the phenotypic changes in patients/carriers and the mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1090-0535
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1167-74
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed-meshheading:17093403-Adult, pubmed-meshheading:17093403-Aged, pubmed-meshheading:17093403-Amino Acid Sequence, pubmed-meshheading:17093403-Asian Continental Ancestry Group, pubmed-meshheading:17093403-DNA Mutational Analysis, pubmed-meshheading:17093403-Electroretinography, pubmed-meshheading:17093403-Eye Proteins, pubmed-meshheading:17093403-Female, pubmed-meshheading:17093403-Fundus Oculi, pubmed-meshheading:17093403-Gene Deletion, pubmed-meshheading:17093403-Genetic Variation, pubmed-meshheading:17093403-Heterozygote, pubmed-meshheading:17093403-Humans, pubmed-meshheading:17093403-Intracellular Signaling Peptides and Proteins, pubmed-meshheading:17093403-Male, pubmed-meshheading:17093403-Membrane Proteins, pubmed-meshheading:17093403-Middle Aged, pubmed-meshheading:17093403-Molecular Sequence Data, pubmed-meshheading:17093403-Mutation, pubmed-meshheading:17093403-Pedigree, pubmed-meshheading:17093403-Phenotype, pubmed-meshheading:17093403-Retinitis Pigmentosa, pubmed-meshheading:17093403-Sequence Analysis, pubmed-meshheading:17093403-Severity of Illness Index, pubmed-meshheading:17093403-Sex Factors
pubmed:year
2006
pubmed:articleTitle
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.
pubmed:affiliation
Department of Ophthalmology and Visual Science, Faculty of Medicine, The University of Miyazaki, Miyazaki, Japan. jinzb@med.miyazaki-u.ac.jp <jinzb@med.miyazaki-u.ac.jp>
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't