Source:http://linkedlifedata.com/resource/pubmed/id/15618730
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2004-12-27
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pubmed:abstractText |
Five novel single nucleotide polymorphisms (SNPs) were found in the EPHX1 gene from 96 Japanese epileptic patients. The detected SNPs were as follows: 1) SNP, MPJ6_EX1009; GENE NAME, EPHX1 ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-CCTCACTTCAGTG/ACTGGGCTTTGCC-3'. 2) SNP, MPJ6_EX1013; GENE NAME, EPHX1; ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-TCCGCAGCCAGGG/CAGGACGACAGCA-3'. 3) SNP, MPJ6_EX1026; GENE NAME, EPHX1; ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-GTTCTCCCTGGAC/TGACCTGCTGACC-3'. 4) SNP, MPJ6_EX1028; GENE NAME, EPHX1; ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-AGGCAGGGGGACG/AGCCAGTCTTGGG-3'. 5) SNP, MPJ6_EX1030; GENE NAME, EPHX1; ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-TGAAAAGTGGGTG/AAGGTTCAAGTAC-3'. The frequencies were 0.016 for MPJ6_EX1028 (IVS8+54G>A) and 0.005 for the other SNPs. The SNP MPJ6_EX1013 (130G>C) results in an amino acid alteration (E44Q). The other three SNPs in the coding region, MPJ6_EX1009 (30G>A), MPJ6_EX1026 (1056C>T), and MPJ6_EX1030 (1239G>A) result in synonymous changes (V10V, D352D, and V413V, respectively).
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pubmed:language |
eng
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pubmed:journal | |
pubmed:status |
PubMed-not-MEDLINE
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pubmed:issn |
1347-4367
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pubmed:author |
pubmed-author:GotoYu-ichiY,
pubmed-author:ItodaMasayaM,
pubmed-author:KatohMasaakiM,
pubmed-author:KawaiMitsuruM,
pubmed-author:KimuraHideoH,
pubmed-author:MaekawaKeikoK,
pubmed-author:MinamiNarihiroN,
pubmed-author:NakajimaYukikoY,
pubmed-author:OhnumaTeiichiT,
pubmed-author:OhtsukiTaisukeT,
pubmed-author:OzawaShogoS,
pubmed-author:SaitoYoshiroY,
pubmed-author:SaitohOsamuO,
pubmed-author:SawadaJun-ichiJ,
pubmed-author:ShisekiKishoK,
pubmed-author:SugaiKenjiK,
pubmed-author:SuzukiChiekoC
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pubmed:issnType |
Print
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pubmed:volume |
18
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
150-3
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pubmed:dateRevised |
2009-11-3
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pubmed:year |
2003
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pubmed:articleTitle |
Five novel single nucleotide polymorphisms in the EPHX1 gene encoding microsomal epoxide hydrolase.
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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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