Source:http://linkedlifedata.com/resource/pubmed/id/15499192
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2004-10-22
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pubmed:abstractText |
Thirty-three genetic variations including fourteen novel ones were found in the SLC22A2 gene from 116 Japanese individuals. The novel variations were as follows: 596C>T (MPJ6_OC2003), 602C>T (MPJ6_OC2004), IVS5+20A>G (MPJ6_OC2010), IVS5-84_-83insG (MPJ6_OC2013), IVS6+30T>C (MPJ6_OC2014), IVS6+146G>T (MPJ6_OC2016), IVS6+179G>T (MPJ6_OC2017), IVS6-16delT (MPJ6_OC2018), 1920G>A (MPJ6_OC2022), 2153G>A (MPJ6_OC2026), 2157C>T (MPJ6_OC2028), 2306T>C (MPJ6_OC2031), 2342+5T>C (the last nucleotide number of mRNA+the position in the 3'-flanking region; MPJ6_OC2032) and 2342+127T>C (MPJ6_OC2033). Six variations were located in the exons, four of which were in the 3'-untranslated region (3'-UTR) of exon 11; six were in the introns; and two were in the 3'-flanking region. The frequencies were 0.802 for IVS5-84_-83insG, 0.013 for 602C>T, 0.009 for 596C>T, and 0.004 for the other 11 variations. Among them, 596C>T and 602C>T resulted in amino acid substitutions (Thr199Ile and Thr201Met, respectively).
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1347-4367
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pubmed:author |
pubmed-author:Fukushima-UesakaHiromiH,
pubmed-author:KamakuraShiroS,
pubmed-author:KitakazeMasafumiM,
pubmed-author:KomamuraKazuoK,
pubmed-author:MaekawaKeikoK,
pubmed-author:OzawaShogoS,
pubmed-author:SaitoYoshiroY,
pubmed-author:SawadaJun-ichiJ,
pubmed-author:ShibakawaMasahikoM,
pubmed-author:TomoikeHitonobuH,
pubmed-author:UenoKazuyukiK
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pubmed:issnType |
Print
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pubmed:volume |
19
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
239-44
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:15499192-Amino Acid Substitution,
pubmed-meshheading:15499192-Asian Continental Ancestry Group,
pubmed-meshheading:15499192-Exons,
pubmed-meshheading:15499192-Genetic Variation,
pubmed-meshheading:15499192-Humans,
pubmed-meshheading:15499192-Introns,
pubmed-meshheading:15499192-Organic Cation Transport Proteins,
pubmed-meshheading:15499192-Polymorphism, Single Nucleotide,
pubmed-meshheading:15499192-Sequence Analysis, DNA
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pubmed:year |
2004
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pubmed:articleTitle |
Fourteen novel single nucleotide polymorphisms in the SLC22A2 gene encoding human organic cation transporter (OCT2).
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pubmed:affiliation |
Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.
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pubmed:publicationType |
Journal Article
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