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AKAGAWA HIROYUKI
Department Research Institutes and Facilities, Research Institutes and Facilities Position Associate Professor |
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| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients. |
| Journal | Formal name：Clinical and experimental nephrology Abbreviation：Clin Exp Nephrol ISSN code：(1437-7799)1342-1751(Linking) |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 23(8),pp.1022-1030 |
| Author and coauthor | Mochizuki Toshio, Teraoka Atsuko, Akagawa Hiroyuki, Makabe Shiho, Akihisa Taro, Sato Masayo, Kataoka Hiroshi, Mitobe Michihiro, Furukawa Toru, Tsuchiya Ken, Nitta Kosaku |
| Publication date | 2019/04 |
| Summary | Although NGS is useful, we propose the addition of Sanger sequencing for exon 1 of PKD1 and MLPA as indispensable for identifying mutations not detected by NGS. |
| DOI | 10.1007/s10157-019-01736-3 |
| PMID | 30989420 |