Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

Autor: Charbit-Henrion, Fabienne, Bègue, Bernadette, Sierra, Anaïs, Hanein, Sylvain, Stolzenberg, Marie-Claude, Li, Zhi, Pellegrini, Sandra, Garcelon, Nicolas, Jeanpierre, Marc, Neven, Bénédicte, Loge, Isabelle, Picard, Capucine, Rosain, Jeremie, Bustamante, Jacinta, Le Lorc'H, Marc, Pigneur, Benedicte, Fernandes, Alicia, Rieux-Laucat, Frédéric, Amil Dias, Jorge, Ruemmele, Frank, Cerf-Bensussan, Nadine

Publikováno v: PLoS ONE
PLoS ONE, Public Library of Science, 2018, 13 (10), pp.e0205826. ⟨10.1371/journal.pone.0205826⟩
PLoS ONE, 2018, 13 (10), pp.e0205826. ⟨10.1371/journal.pone.0205826⟩

International audience; Mutations in interleukin-10 receptor (IL-10R) genes are one cause of very early-onset inflammatory bowel disease with perianal lesions, which can be cured by hematopoietic stem cell transplantation. Using a functional test, wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3fa2998ffb5ebae35194f90ad2d3f1a9
https://hal-pasteur.archives-ouvertes.fr/pasteur-02070998

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