HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene

Immunogenetics

Volumn 59, Issue 1, 2007, Pages 17-23

  Apoil, P A ^a,b   Kuhlein, E ^a,b   Robert, A ^c   Rubie, H ^c   Blancher, A ^a,b  

^a UNIVERSITÉ DE TOULOUSE   (France)

^b CHU RANGUEIL   (France)

^c CHU PURPAN   (France)

Author keywords

AluYb8 element; CD40LG; Exonic Alu insertion; HIGM1 syndrome

Indexed keywords

CD40 LIGAND;

ARTICLE; CASE REPORT; EXON; GENE INACTIVATION; GENE INSERTION; HUMAN; HUMAN CELL; HYPER IGM WITH IMMUNODEFICIENCY SYNDROME; IMMUNE DEFICIENCY; INFANT; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; T LYMPHOCYTE; VERTICAL TRANSMISSION; X CHROMOSOME LINKED DISORDER;

ALU ELEMENTS; BASE SEQUENCE; CD40 LIGAND; CHROMOSOMES, HUMAN, X; EXONS; GENETIC DISEASES, X-LINKED; HUMANS; HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 1; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION;

EID: 33845739206     PISSN: 00937711     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00251-006-0175-5     Document Type: Article

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