All reported non-canonical splice site variants in GLA cause aberrant splicing.

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Title: All reported non-canonical splice site variants in GLA cause aberrant splicing.
Authors: Okada E; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan. okada.eri.oy@ms.hosp.tsukuba.ac.jp.; Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan. okada.eri.oy@ms.hosp.tsukuba.ac.jp., Horinouchi T; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan., Yamamura T; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan., Aoto Y; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan., Suzuki R; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan.; Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan., Ichikawa Y; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan., Tanaka Y; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan., Masuda C; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan., Kitakado H; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan., Kondo A; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan., Sakakibara N; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan., Ishiko S; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan., Nagano C; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan., Ishimori S; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan., Usui J; Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan., Yamagata K; Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan., Matsuo M; Department of Physical Rehabilitation and Research Center for Locomotion Biology, Kobe Gakuin University, Hyogo, Japan., Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan.
Source: Clinical and experimental nephrology [Clin Exp Nephrol] 2023 Sep; Vol. 27 (9), pp. 737-746. Date of Electronic Publication: 2023 May 31.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: Japan NLM ID: 9709923 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1437-7799 (Electronic) Linking ISSN: 13421751 NLM ISO Abbreviation: Clin Exp Nephrol Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1437-7799
DOI:10.1007/s10157-023-02361-x