Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 318-322

  Schuster, Volker ^a   Seidenspinner, Silvia ^a   Kreth, Hans Wolfgang ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

amplification mutagenesis; Bruton's tyrosine kinase (BTK); carrier analysis; single strand conformation polymorphism (SSCP); X linked agammaglobulinemia (XLA)

Indexed keywords

PROTEIN TYROSINE KINASE;

ADOLESCENT; ARTICLE; CASE REPORT; DNA POLYMORPHISM; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; X LINKED AGAMMAGLOBULINEMIA;

BACTERIA (MICROORGANISMS);

EID: 0029873770     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<318::AID-AJMG53>3.0.CO;2-N     Document Type: Article

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