Hyper-IgD and periodic fever syndrome: A new MVK mutation (p.R277G) associated with a severe phenotype

Gene

Volumn 542, Issue 2, 2014, Pages 217-220

  Santos, Joana A ^a   Aróstegui, Juan I ^b   Brito, Maria J ^a   Neves, Conceição ^a   Conde, Marta ^a  

^a HOSPITAL DONA ESTEFÂNIA   (Portugal)

^b INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

Author keywords

Anakinra; Hyperimmunoglobulinemia D and periodic fever syndrome; Mevalonate kinase; New mutation; Phenotype

Indexed keywords

ANAKINRA; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; MEVALONATE KINASE; NEW MUTATION; PHENOTYPE;

ACUTE-PHASE REACTION; CHILD, PRESCHOOL; FEVER; HOMOZYGOTE; HUMANS; IMMUNOGLOBULIN D; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; MALE; MEVALONATE KINASE DEFICIENCY; MUTATION, MISSENSE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 84898827598     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.03.031     Document Type: Article

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