Ebun Omoyinmi Sónia Melo Gomes Ariane Standing Dorota M Rowczenio Despina Eleftheriou Nigel Klein Juan I Aróstegui Helen J Lachmann Philip N Hawkins Paul A Brogan
10.1002/art.38217
Arthritis Rheumatol
2014 Jan;66(1):197-202.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/24431285/
Carrier Proteins / genetics Cryopyrin-Associated Periodic Syndromes / genetics Mosaicism
Carrier Proteins / genetics Cryopyrin-Associated Periodic Syndromes / genetics Mosaicism Case Reports Research Support, Non-U.S. Gov't Child Exome Humans Male Mutation, Missense / genetics NLR Family, Pyrin Domain-Containing 3 Protein Sequence Analysis, DNA Carrier Proteins NLR Family, Pyrin Domain-Containing 3 Protein NLRP3 protein, human
PMC3995009
24431285
Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome
2014