Article
Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing.
DNA research : an international journal for rapid publication of reports on genes and genomes - 1 Apr 2012
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
Abstract excerpt
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 recently found a high incidence of NLRP3 somatic mosaicism in apparently mutation-negative CINCA/NOMID patients using...
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