PMC Links for Nucleotide (Select 219689061) - PMC

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Items: 3

Select item 43220001.

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome

Hal M. Hoffman, James L. Mueller, David H. Broide, Alan A. Wanderer, Richard D. Kolodner

Nat Genet. Author manuscript; available in PMC 2015 Feb 9.

Published in final edited form as: Nat Genet. 2001 Nov; 29(3): 301–305. doi: 10.1038/ng756

PMCID:: PMC4322000

Abstract Article PDF–1.5M

Select item 3849802.

Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes

Jérôme Feldmann, Anne-Marie Prieur, Pierre Quartier, Patrick Berquin, Stéphanie Certain, Elisabetta Cortis, Dominique Teillac-Hamel, Alain Fischer, Geneviève de Saint Basile

Am J Hum Genet. 2002 Jul; 71(1): 198–203. Published online 2002 May 24. doi: 10.1086/341357

Correction in:: Am J Hum Genet. 2002 Nov; 71(5): 1258.

PMCID:: PMC384980

Abstract Article PDF–233K

Select item 55595723.

Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach

Sergio Burillo-Sanz, Marco-Antonio Montes-Cano, José-Raúl García-Lozano, Lourdes Ortiz-Fernández, Norberto Ortego-Centeno, Francisco-José García-Hernández, Gerard Espinosa, Genaro Graña-Gil, Juan Sánchez-Bursón, María Rosa Juliá, Roser Solans, Ricardo Blanco, Ana-Celia Barnosi-Marín, Ricardo Gómez De la Torre, Patricia Fanlo, Mónica Rodríguez-Carballeira, Luis Rodríguez-Rodríguez, Teresa Camps, Santos Castañeda, Juan-Jose Alegre-Sancho, Javier Martín, María Francisca González-Escribano

Sci Rep. 2017; 7: 8453. Published online 2017 Aug 16. doi: 10.1038/s41598-017-09164-7