A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome

European Journal of Pediatrics

Volumn 163, Issue 12, 2004, Pages 704-708

  Fiorini, Claudia ^a   Jilani, Sawssen ^b   Losi, Claretta Gioia ^a   Silini, Antonietta ^a   Giliani, Silvia ^a   Ferrari, Simona ^c   Notarangelo, Luigi D ^a   Plebani, Alessandro ^a   Sfar, Taher ^b   Helal, Ahmed ^b  

^a UNIVERSITY OF BRESCIA   (Italy)

^b Institut Superieur de Biotechnologie   (Tunisia)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Activation induced cytidine deaminase; Cryptic splicing site; Hyper IgM type 2 syndrome; New mutation

Indexed keywords

CYTIDINE DEAMINASE; MESSENGER RNA;

ADULT; ARTICLE; CASE REPORT; ENZYME ACTIVATION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERIMMUNOGLOBULINEMIA M; INTRON; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD;

ADULT; CHILD; CYTIDINE DEAMINASE; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN M; INTRONS; MALE; MUTATION; RNA SPLICING; SIBLINGS;

EID: 19944429493     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1540-8     Document Type: Article

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