Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome

Nature Genetics

Volumn 22, Issue 2, 1999, Pages 178-181

  Drenth, Joost P H ^a,b   Cuisset, Laurence ^a   Grateau, Gilles ^c   Vasseur, Christian ^a   Van De Velde Visser, Saskia D ^b   De Jong, Jan G N ^b   Beckmann, Jacques S ^d   Van Der Meer, Jos W M ^b   Delpech, Marc ^a  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c HÔTEL DIEU   (France)

^d GÉNÉTHON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN D; MEVALONIC ACID; PHOSPHOTRANSFERASE;

ARTICLE; CHROMOSOME 12Q; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; ENZYME ACTIVITY; FEVER; FIBROBLAST; GENE MAPPING; GENE MUTATION; HUMAN; HYPERIMMUNOGLOBULINEMIA; IMMUNOGLOBULIN BLOOD LEVEL; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

EID: 0033039501     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/9696     Document Type: Article

References (21)

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