Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. [electronic resource]
Producer: 20051209Description: 3579-85 p. digitalISSN:- 0004-3591
- Adolescent
- Carrier Proteins -- genetics
- Chronic Disease
- DNA Mutational Analysis
- Female
- Fever
- Hearing Loss, Sensorineural
- Humans
- Inflammation -- genetics
- Interleukin-1 -- metabolism
- Leukocytes, Mononuclear -- drug effects
- Male
- Meningitis
- Mosaicism
- NF-kappa B -- biosynthesis
- NLR Family, Pyrin Domain-Containing 3 Protein
- Pedigree
- Point Mutation
- Polymorphism, Single Nucleotide
- Syndrome
- Urticaria
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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