XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts

Journal of Clinical Immunology

Volumn 22, Issue 5, 2002, Pages 306-318

  Noordzij, Jeroen G ^a   De Bruin Versteeg, Sandra ^a   Hartwig, Nico G ^a   Weemaes, Corry M R ^b   Gerritsen, Egbert J A ^c   Bernatowska, Eva ^d   Van Lierde, Stefaan ^e   De Groot, Ronald ^a   Van Dongen, Jacques J M ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Medisch Centrum Rijnmond Zuid   (Netherlands)

^d CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^e Regionaal Ziekenhuis Heilig Hart Tienen   (Belgium)

Author keywords

Bruton's tyrosine kinase (BTK); Genotype phenotype; Real time quantitative (RQ) PCR; Splice site mutation; X linked agammaglobulinemia (XLA)

Indexed keywords

BRUTON TYROSINE KINASE; MESSENGER RNA; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG;

ARTICLE; B LYMPHOCYTE; CELL SELECTION; CLINICAL ARTICLE; CONTROLLED STUDY; FLOW CYTOMETRY; GENE EXPRESSION; GENE MUTATION; GENOTYPE; GRANULOCYTE; HUMAN; HUMAN CELL; IMMUNOPHENOTYPING; LYMPHOCYTE COUNT; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRE B LYMPHOCYTE; PRIORITY JOURNAL; RNA SPLICING; WESTERN BLOTTING; X LINKED AGAMMAGLOBULINEMIA;

ADOLESCENT; AGAMMAGLOBULINEMIA; ALTERNATIVE SPLICING; CHILD; CHROMOSOMES, HUMAN, X; DNA, RECOMBINANT; FLOW CYTOMETRY; GENE EXPRESSION; HUMANS; MALE; MUTATION; PROTEIN-TYROSINE KINASES; RNA, MESSENGER;

EID: 0036749665     PISSN: 02719142     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1019982206951     Document Type: Article

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