Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

Journal of Experimental Medicine

Volumn 205, Issue 11, 2008, Pages 2465-2472

  Péron, Sophie ^a,b   Metin, Ayse ^c   Gardés, Pauline ^a,b   Alyanakian, Marie Alexandra ^b   Sheridan, Eamonn ^d   Kratz, Christian Peter ^e   Fischer, Alain ^a,b,f   Durandy, Anne ^a,b,f  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Diskapi Children's Hospital   (Turkey)

^d UNIVERSITY OF LEEDS   (United Kingdom)

^e UNIVERSITY OF FREIBURG   (Germany)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MUTL; ADENOSINE TRIPHOSPHATASE; DNA BINDING PROTEIN; PMS2 PROTEIN, HUMAN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; B LYMPHOCYTE; CASE REPORT; CHILD; CLINICAL FEATURE; DOUBLE STRANDED DNA BREAK; FEMALE; GENE MUTATION; GENE REARRANGEMENT; HOMOZYGOSITY; HUMAN; LYMPHOCYTE; MISMATCH REPAIR; MISMATCH REPAIR PROTEIN PMS2 DEFICIENCY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; RNA TRANSCRIPTION; SCHOOL CHILD; COMPARATIVE STUDY; DNA SEQUENCE; FLOW CYTOMETRY; FLUORESCENT ANTIBODY TECHNIQUE; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; IMMUNE DEFICIENCY; IMMUNOLOGY; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

ADENOSINE TRIPHOSPHATASES; B-LYMPHOCYTES; BASE SEQUENCE; BLOTTING, WESTERN; CHILD; DNA BREAKS, DOUBLE-STRANDED; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; FLOW CYTOMETRY; FLUORESCENT ANTIBODY TECHNIQUE; FRAMESHIFT MUTATION; HUMANS; IMMUNOGLOBULIN CLASS SWITCHING; IMMUNOLOGIC DEFICIENCY SYNDROMES; MOLECULAR SEQUENCE DATA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 58149165112     PISSN: 00221007     EISSN: 15409538     Source Type: Journal    
DOI: 10.1084/jem.20080789     Document Type: Article

References (30)

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