A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
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| Title: | A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. |
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| Authors: | Nishimura M; Division of Clinical Genetics, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan. ZXA03460@nifty.ne.jp.; Division of Laboratory Medicine, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan. ZXA03460@nifty.ne.jp., Ueda M; Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan., Ebata R; Department of Pediatrics, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan., Utsuno E; Division of Clinical Genetics, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan., Ishii T; Kawaguchi Kogyo General Hospital, 1-18-10, Sakae-cho, Kawaguchi, Saitama, 332-0017, Japan., Matsushita K; Division of Clinical Genetics, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan.; Division of Laboratory Medicine, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan., Ohara O; Kazusa DNA Reaearch Institute, 2-6-7 Kazusa-kamatari, Kisarazu, Chiba, 292-0818, Japan., Shimojo N; Department of Pediatrics, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan., Kobayashi Y; Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan., Nomura F; Division of Clinical Genetics, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan.; Divisions of Clinical Mass Spectrometry and Clinical Genetics, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan. |
| Source: | BMC medical genetics [BMC Med Genet] 2017 Jun 08; Vol. 18 (1), pp. 66. Date of Electronic Publication: 2017 Jun 08. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 28595573 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Nishimura+M%22">Nishimura M</searchLink>; Division of Clinical Genetics, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan. ZXA03460@nifty.ne.jp.; Division of Laboratory Medicine, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan. ZXA03460@nifty.ne.jp.<br /><searchLink fieldCode="AU" term="%22Ueda+M%22">Ueda M</searchLink>; Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan.<br /><searchLink fieldCode="AU" term="%22Ebata+R%22">Ebata R</searchLink>; Department of Pediatrics, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan.<br /><searchLink fieldCode="AU" term="%22Utsuno+E%22">Utsuno E</searchLink>; Division of Clinical Genetics, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan.<br /><searchLink fieldCode="AU" term="%22Ishii+T%22">Ishii T</searchLink>; Kawaguchi Kogyo General Hospital, 1-18-10, Sakae-cho, Kawaguchi, Saitama, 332-0017, Japan.<br /><searchLink fieldCode="AU" term="%22Matsushita+K%22">Matsushita K</searchLink>; Division of Clinical Genetics, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan.; Division of Laboratory Medicine, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan.<br /><searchLink fieldCode="AU" term="%22Ohara+O%22">Ohara O</searchLink>; Kazusa DNA Reaearch Institute, 2-6-7 Kazusa-kamatari, Kisarazu, Chiba, 292-0818, Japan.<br /><searchLink fieldCode="AU" term="%22Shimojo+N%22">Shimojo N</searchLink>; Department of Pediatrics, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan.<br /><searchLink fieldCode="AU" term="%22Kobayashi+Y%22">Kobayashi Y</searchLink>; Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan.<br /><searchLink fieldCode="AU" term="%22Nomura+F%22">Nomura F</searchLink>; Division of Clinical Genetics, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan.; Divisions of Clinical Mass Spectrometry and Clinical Genetics, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22100968552%22">BMC medical genetics</searchLink> [BMC Med Genet] 2017 Jun 08; Vol. 18 (1), pp. 66. <i>Date of Electronic Publication: </i>2017 Jun 08. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100968552 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2350 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712350%22">14712350 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=28595573 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12881-017-0430-7 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 66 Titles: – TitleFull: A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Nishimura M – PersonEntity: Name: NameFull: Ueda M – PersonEntity: Name: NameFull: Ebata R – PersonEntity: Name: NameFull: Utsuno E – PersonEntity: Name: NameFull: Ishii T – PersonEntity: Name: NameFull: Matsushita K – PersonEntity: Name: NameFull: Ohara O – PersonEntity: Name: NameFull: Shimojo N – PersonEntity: Name: NameFull: Kobayashi Y – PersonEntity: Name: NameFull: Nomura F IsPartOfRelationships: – BibEntity: Dates: – D: 08 M: 06 Text: 2017 Jun 08 Type: published Y: 2017 Identifiers: – Type: issn-electronic Value: 1471-2350 Numbering: – Type: volume Value: 18 – Type: issue Value: 1 Titles: – TitleFull: BMC medical genetics Type: main |
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