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.
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

Description
ISSN:	1471-2350
DOI:	10.1186/s12881-017-0430-7