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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Vydáno v:BMC Gastroenterol
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Case Report
On-line přístup: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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