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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Full Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3325078/
https://www.ncbi.nlm.nih.gov/pubmed/22279087
http://dx.doi.org/10.1093/dnares/dsr047

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