X-linked agammaglobulinemia in a 10-year-old boy with a novel non-invariant splice-site mutation in Btk gene

Blood Cells, Molecules, and Diseases

Volumn 44, Issue 4, 2010, Pages 300-304

  Maekawa, Kota ^a   Yamada, Masafumi ^a   Okura, Yuka ^a   Sato, Yasumasa ^b   Yamada, Yutaka ^b   Kawamura, Nobuaki ^a   Ariga, Tadashi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b HAKODATE CENTRAL GENERAL HOSPITAL   (Japan)

Author keywords

Bruton's tyrosine kinase (Btk); Non invariant splice site mutation; Significant levels of serum immunoglobulins; X linked agammaglobulinemia (XLA)

Indexed keywords

BRUTON TYROSINE KINASE; IMMUNOGLOBULIN;

ARTICLE; BACTERIAL INFECTION; CASE REPORT; CHILD; CONTROLLED STUDY; EXON; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; INTRON; MALE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT DISEASE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SCHOOL CHILD; SEQUENCE ANALYSIS; SYMPTOMATOLOGY; WESTERN BLOTTING; X LINKED AGAMMAGLOBULINEMIA;

AGAMMAGLOBULINEMIA; BACTERIAL INFECTIONS; CHILD; DELAYED DIAGNOSIS; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOGLOBULINS; INTRONS; LEUKOCYTES, MONONUCLEAR; MALE; PHENOTYPE; PROTEIN-TYROSINE KINASES; RECURRENCE; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA;

BACTERIA (MICROORGANISMS);

EID: 77950298642     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.01.004     Document Type: Article

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