Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing

Chronic infantile neurological cutaneous and articular syndrome (CINCA), also known as neonatal-onset multisystem inflammatory disease (NOMID), is a dominantly inherited systemic autoinflammatory disease and is caused by a heterozygous germline gain-of-function mutation in the NLRP3 gene. We recentl...

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Main Authors: Izawa, Kazushi, Hijikata, Atsushi, Tanaka, Naoko, Kawai, Tomoki, Saito, Megumu K, Goldbach-Mansky, Raphaela, Aksentijevich, Ivona, Yasumi, Takahiro, Nakahata, Tatsutoshi, Heike, Toshio, Nishikomori, Ryuta, Ohara, Osamu
פורמט: Artigo
שפה:Inglês
יצא לאור: Oxford University Press 2012
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Full Papers
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3325078/
https://ncbi.nlm.nih.gov/pubmed/22279087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/dnares/dsr047
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