|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0035334,
umls-concept:C0142328,
umls-concept:C0175659,
umls-concept:C0222045,
umls-concept:C0314603,
umls-concept:C0349674,
umls-concept:C0450254,
umls-concept:C1706907,
umls-concept:C2338991,
umls-concept:C2348164
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|
pubmed:issue |
7
|
|
pubmed:dateCreated |
2008-7-2
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|
pubmed:abstractText |
More than half of the retinitis pigmentosa (RP) cases are genetically simplex or multiplex. To date, 37 causative genes of RP have been identified; however, the elucidation of gene defects in simplex or multiplex RP patients/families remains problematic. The aim of our study was to identify the genetic causes of RP in patients with unknown or non-Mendelian inheritance.
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
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pubmed:month |
Jul
|
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:AkimotoMM,
pubmed-author:HiguchiKK,
pubmed-author:HiramiYY,
pubmed-author:IchiyamaSS,
pubmed-author:IkedaHH,
pubmed-author:ItabashiTT,
pubmed-author:KawagoeNN,
pubmed-author:KimY-CYC,
pubmed-author:KosugiSS,
pubmed-author:MandaiMM,
pubmed-author:OhmoriKK,
pubmed-author:OhtsukaNN,
pubmed-author:OishiAA,
pubmed-author:OotaEE,
pubmed-author:SuzukiTT,
pubmed-author:TakahashiMM,
pubmed-author:TakakuraSS,
pubmed-author:WadaYY,
pubmed-author:YokotaTT,
pubmed-author:YoshimuraNN
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pubmed:issnType |
Electronic
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pubmed:volume |
45
|
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
465-72
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pubmed:meshHeading |
pubmed-meshheading:18310263-Algorithms,
pubmed-meshheading:18310263-DNA,
pubmed-meshheading:18310263-Humans,
pubmed-meshheading:18310263-Intermediate Filament Proteins,
pubmed-meshheading:18310263-Membrane Glycoproteins,
pubmed-meshheading:18310263-Mutation, Missense,
pubmed-meshheading:18310263-Nerve Tissue Proteins,
pubmed-meshheading:18310263-Polymerase Chain Reaction,
pubmed-meshheading:18310263-Retinitis Pigmentosa,
pubmed-meshheading:18310263-Sequence Analysis, DNA
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pubmed:year |
2008
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pubmed:articleTitle |
Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study.
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pubmed:publicationType |
Letter,
Research Support, Non-U.S. Gov't
|
