The C3 p.Ile1157Thr mutation associated with atypical hemolytic uremic syndrome, particularly in Japan, does not lead to disease development in several mouse models.

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Title: The C3 p.Ile1157Thr mutation associated with atypical hemolytic uremic syndrome, particularly in Japan, does not lead to disease development in several mouse models.
Authors: Okumura Y; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan., Toyoda H; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan. Electronic address: htoyoda@med.mie-u.ac.jp., Takeoka M; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan., Kokame K; Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Japan., Lin SW; Department of Clinical Laboratory Science and Medical Biotechnology, College of Medicine, National Taiwan University, Taipei, Taiwan., Nishio K; Department of General Medicine, Nara Medical University, Kashihara, Nara, Japan., Kohso A; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan., Wada H; Department of Research Center, Mie Prefectural General Medical Center, Yokkaichi, Japan., Tawara I; Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Japan., Hirayama M; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan., Miyata T; Department of Cerebrovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan.
Source: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2026 Jul; Vol. 24 (7), pp. 2480-2491. Date of Electronic Publication: 2026 Mar 09.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101170508 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7836 (Electronic) Linking ISSN: 15387836 NLM ISO Abbreviation: J Thromb Haemost Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1538-7836
DOI:10.1016/j.jtha.2026.02.029