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. |
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| 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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| ISSN: | 1865-3774 |
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| DOI: | 10.1007/s12185-024-03796-y |
