Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

European Journal of Human Genetics

Volumn 9, Issue 4, 2001, Pages 260-266

  Cuisset, Laurence ^a   Drenth, Joost P H ^b   Simon, Anna ^b   Vincent, Marie Francoise ^c   Van Der Velde Visser, Saskia ^b   Van Der Meer, Jos W M ^b   Grateau, Gilles ^d   Delpech, Marc ^a  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Laboratoire des Maladies Métaboliques   (Belgium)

^d HÔTEL DIEU   (France)

Author keywords

Hyper IgD syndrome; Mevalonate kinase; Periodic fever

Indexed keywords

ADENINE; ADENOSINE TRIPHOSPHATE; GUANINE; IMMUNOGLOBULIN D; MEVALONIC ACID; PHOSPHOTRANSFERASE; PROTEIN KINASE;

ACIDURIA; ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE CLUSTER; GENE DELETION; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; HYPERIMMUNOGLOBULINEMIA; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PERIODIC FEVER SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

EID: 0035055571     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200614     Document Type: Article

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