Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient.
A first report of an XLA patient with a polymorphism in Btk SH3 domain has been identified after sequencing of the entire gene. SH3 domain variants might not be detected due to well characterized mutations outside the domain.
Pérez de Diego
Rebeca
R
Bravo
Jerónimo
J
Allende
Luis M
LM
López-Granados
Eduardo
E
Rivera
José
J
Ferreira
Antonio
A
Fontán
Gumersindo
G
García Rodríguez
Maria Cruz
MC
D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000201:enzymology* / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000201:enzymology*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017433:Protein Structure, Secondary; D011505:Protein-Tyrosine Kinases / Q000737:chemistry* / Q000235:genetics*; D018909:src Homology Domains
D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human