A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.
Ohashi
Y
Y
Tsuchiya
S
S
Konno
T
T
D000293:Adolescent; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000201:enzymology / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D017931:DNA Primers; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010649:Phenylalanine / Q000235:genetics; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D014960:X Chromosome
D017931:DNA Primers; D010649:Phenylalanine; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human; D007930:Leucine