title: Novel double heterozygous mutations in MEFV and NLRP3 genes in a patient with familial Mediterranean fever.
authors.affiliation: From *Harvard-MIT Division of Health Sciences and Technology, †Department ofMedicine, VA Boston Healthcare System, and ‡Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
authors.forename: Dmitriy
authors.initials: D
authors.lastname: Timerman
authors.forename: Natasha Y
authors.initials: NY
authors.lastname: Frank
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D000071198:Pyrin
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D000071198:Pyrin