논문KCI 등재
A Case of Familial Cold Autoinflammatory Syndrome with De Novo NLRP3 Mutation
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참고문헌 (5)
- Kreft B, "Cryopyrin-associated periodic syndrome(CAPS)in a patient with NLRP3 T348M mutation", J Dtsch Dermatol Ges, 16, pp.1266~1268 (2018)
- Naz Villalba E, "Muckle-Wells syndrome : a case report with an NLRP3 T348M mutation", Pediatr Dermatol, 33, pp.e311~e314 (2016)
- Hoffman HM, "Fine structure mapping of CIAS1:identification of an ancestral haplotype and a common FCAS mutation, L353P", Hum Genet, 112, pp.209~216 (2003)
- Karacan İ, "Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases : a multi-center study", Rheumatol Int, 39, pp.911~919 (2019)
- 한종희, "The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea", Allergy, Asthma & Immunology Research, 11(4), pp.583~588 (2019), 대한천식알레르기학회
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