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Long-range and real-time PCR identification of a large SERPINC1 deletion in a patient with antithrombin deficiency.

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Title: Long-range and real-time PCR identification of a large SERPINC1 deletion in a patient with antithrombin deficiency.
Authors: Matsumoto S; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan. matsumoto.shinya.544@m.kyushu-u.ac.jp., Uchiumi T; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Department of Health Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Ueyanagi Y; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan., Noda N; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan., Sakai A; Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Hotta T; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan., Kato K; Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Ohga S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Kunisaki Y; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Kang D; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.; Kashiigaoka Rehabilitation Hospital, Fukuoka, Japan.; Department of Medical Laboratory Science, Faculty of Health Sciences, Junshin Gakuen University, Fukuoka, Japan.
Source: International journal of hematology [Int J Hematol] 2024 Aug; Vol. 120 (2), pp. 179-185. Date of Electronic Publication: 2024 May 27.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Springer Japan Country of Publication: Japan NLM ID: 9111627 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-3774 (Electronic) Linking ISSN: 09255710 NLM ISO Abbreviation: Int J Hematol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Long-range and real-time PCR identification of a large SERPINC1 deletion in a patient with antithrombin deficiency.
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  Data: <searchLink fieldCode="AU" term="%22Matsumoto+S%22">Matsumoto S</searchLink>; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan. matsumoto.shinya.544@m.kyushu-u.ac.jp.<br /><searchLink fieldCode="AU" term="%22Uchiumi+T%22">Uchiumi T</searchLink>; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Department of Health Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Ueyanagi+Y%22">Ueyanagi Y</searchLink>; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.<br /><searchLink fieldCode="AU" term="%22Noda+N%22">Noda N</searchLink>; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.<br /><searchLink fieldCode="AU" term="%22Sakai+A%22">Sakai A</searchLink>; Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Hotta+T%22">Hotta T</searchLink>; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.<br /><searchLink fieldCode="AU" term="%22Kato+K%22">Kato K</searchLink>; Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Ohga+S%22">Ohga S</searchLink>; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Kunisaki+Y%22">Kunisaki Y</searchLink>; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Kang+D%22">Kang D</searchLink>; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.; Kashiigaoka Rehabilitation Hospital, Fukuoka, Japan.; Department of Medical Laboratory Science, Faculty of Health Sciences, Junshin Gakuen University, Fukuoka, Japan.
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  Data: <searchLink fieldCode="JN" term="%229111627%22">International journal of hematology</searchLink> [Int J Hematol] 2024 Aug; Vol. 120 (2), pp. 179-185. <i>Date of Electronic Publication: </i>2024 May 27.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Japan%22">Springer Japan </searchLink><i>Country of Publication: </i>Japan <i>NLM ID: </i>9111627 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1865-3774 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209255710%22">09255710 </searchLink><i>NLM ISO Abbreviation: </i>Int J Hematol <i>Subsets: </i>MEDLINE
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              Text: 2024 Aug
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