High Incidence of NLRP3 Somatic Mosaicism in Patients With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome: Results of an International Multicenter Collaborative Study

OBJECTIVE: Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID), is a dominantly inherited systemic autoinflammatory disease. Although heterozygous germline gain-of-function NLRP3 mutations are a known cause of thi...

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Main Authors: Tanaka, Naoko, Izawa, Kazushi, Saito, Megumu K., Sakuma, Mio, Oshima, Koichi, Ohara, Osamu, Nishikomori, Ryuta, Morimoto, Takeshi, Kambe, Naotomo, Goldbach-Mansky, Raphaela, Aksentijevich, Ivona, de Saint Basile, Geneviève, Neven, Bénédicte, van Gijn, Mariëlle, Frenkel, Joost, Aróstegui, Juan I., Yagüe, Jordi, Merino, Rosa, Ibañez, Mercedes, Pontillo, Alessandra, Takada, Hidetoshi, Imagawa, Tomoyuki, Kawai, Tomoki, Yasumi, Takahiro, Nakahata, Tatsutoshi, Heike, Toshio
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3498501/
https://ncbi.nlm.nih.gov/pubmed/21702021
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/art.30512
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