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Clinical Manifestation of Patients With Atypical Hemolytic Uremic Syndrome With the C3 p.I1157T Variation in the Kinki Region of Japan

The gain-of-function variation p.I1157T in C3 was previously identified in 8 patients with atypical hemolytic uremic syndrome (aHUS) at Mie University Hospital. In the present study, we identified another 11 patients with aHUS with this variation, including 10 pediatric patients (onset age: 1-16 yea...

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Detalles Bibliográficos
Autores principales: Matsumoto, Takeshi, Toyoda, Hidemi, Amano, Keishirou, Hirayama, Masahiro, Ishikawa, Eiji, Fujimoto, Mika, Ito, Masaaki, Ohishi, Kohshi, Katayama, Naoyuki, Yoshida, Yoko, Matsumoto, Masanori, Kawamura, Naohisa, Ikejiri, Makoto, Kawakami, Keiki, Miyata, Toshiyuki, Wada, Hideo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714784/
https://www.ncbi.nlm.nih.gov/pubmed/29695177
http://dx.doi.org/10.1177/1076029618771750