Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia

Journal of Medical Genetics

Volumn 34, Issue 6, 1997, Pages 484-488

  Brooimans, Rik A ^a   Van Den Berg, Adriënne J A M ^a   Rijkers, Ger T ^a   Sanders, Lieke A M ^a   Ploos Van Amstel, Johannes K ^b   Tilanus, Marcel G J ^c   Grubben, Marina J A L ^d   Zegers, Ben J M ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b Clinical Genetics Center Utrecht   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Bruton's tyrosine kinase; Immunodeficiency; X linked agammaglobulinaemia

Indexed keywords

DNA; PROTEIN TYROSINE KINASE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; B LYMPHOCYTE; B LYMPHOCYTE DIFFERENTIATION; CHILD; CLINICAL ARTICLE; CODING; DIAGNOSTIC ACCURACY; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRE B LYMPHOCYTE; PRIORITY JOURNAL; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON; X LINKED AGAMMAGLOBULINEMIA;

EID: 0031006798     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.6.484     Document Type: Article

References (11)

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