Missense and Nonsense Mutations of the Flavin-containing Monooxygenase 3 Gene in a Japanese Cohort
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- SHIMIZU Makiko
- Laboratory of Drug Metabolism and Pharmacokinetics, Showa Pharmaceutical University
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- TOMIOKA Sachiko
- Laboratory of Drug Metabolism and Pharmacokinetics, Showa Pharmaceutical University
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- MURAYAMA Norie
- Laboratory of Drug Metabolism and Pharmacokinetics, Showa Pharmaceutical University
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- YAMAZAKI Hiroshi
- Laboratory of Drug Metabolism and Pharmacokinetics, Showa Pharmaceutical University
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We sequenced all exons and exon-intron junctions of the flavin-containing monooxygenase 3 (FMO3) gene from 3 Japanese individuals and their family members, who were case subjects that showed low FMO3 metabolic capacity among a population of self-reported trimethylaminuria Japanese volunteers (n=50). We found three novel single nucleotide polymorphisms (SNPs) (g. 20752 A>G, g. 27400 G>A, and g. 30308 C>T) causing an amino acid substitution and stop codons, Asn114Ser in exon 4, Trp388Stop in exon 7, and Gln470Stop in exon 9, respectively. The Trp388Stop and Gln470Stop also presented together with known SNPs, Val257Met and Glu158Lys, respectively, in the same alleles of the FMO3 gene to form novel haplotypes.<br> These sequences are as follows:<br> 1) SNP, 060825Shimizu004; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5′-TATCCAGTGTAAA/GTAAACATCCTGA-3′.<br> 2) SNP, 060825Shimizu005; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5′-CCAGTCCCGCTGG/AGCAGCACAAGTA-3′.<br> 3) SNP, 060825Shimizu006; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5′-TGTAGTCCCTACC/TAGTTTAGGCTGG-3′.<br>
収録刊行物
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- Drug Metabolism and Pharmacokinetics
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Drug Metabolism and Pharmacokinetics 22 (1), 61-64, 2007
日本薬物動態学会
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詳細情報 詳細情報について
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- CRID
- 1390001205179148416
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- NII論文ID
- 130004933404
- 10018733032
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- NII書誌ID
- AA1162652X
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- ISSN
- 18800920
- 13474367
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- Crossref
- CiNii Articles
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- 使用不可