학술논문

Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA
Document Type
Academic Journal
Source
Pediatric Rheumatology. September 28, 2015, Vol. 13 Issue Suppl 1
Subject
Nucleotide sequencing -- Genetic aspects -- Analysis -- Research
Genetic research -- Genetic aspects -- Analysis
DNA sequencing -- Genetic aspects -- Analysis -- Research
Language
English
ISSN
1546-0096
Abstract
Author(s): S Melo Gomes[sup.1] , J Arostegui[sup.2] , E Omoyinmi[sup.1] , A Standing[sup.1] , N Klein[sup.1] , H Lachmann[sup.3] , P Hawkins[sup.3] and P Brogan[sup.1] Introduction Cryopyrin-associated periodic Syndromes (CAPS) [...]