Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report

BACKGROUND: Although deleterious mutations in interleukin-10 and its receptor molecules cause severe infantile-onset inflammatory bowel disease, there are no reports of mutations affecting this signaling pathway in Japanese patients. Here we report a novel exonic mutation in the IL10RA gene that cau...

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Библиографические подробности
Опубликовано в: :BMC Gastroenterol
Главные авторы: Yanagi, Tadahiro, Mizuochi, Tatsuki, Takaki, Yugo, Eda, Keisuke, Mitsuyama, Keiichi, Ishimura, Masataka, Takada, Hidetoshi, Shouval, Dror S., Griffith, Alexandra E., Snapper, Scott B., Yamashita, Yushiro, Yamamoto, Ken
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2016
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4730728/
https://ncbi.nlm.nih.gov/pubmed/26822028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12876-016-0424-5
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