title: Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient.
abstract: 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.
authors: Rebeca
authors: R
authors: Pérez de Diego
authors: Jerónimo
authors: J
authors: Bravo
authors: Luis M
authors: LM
authors: Allende
authors: Eduardo
authors: E
authors: López-Granados
authors: José
authors: J
authors: Rivera
authors: Antonio
authors: A
authors: Ferreira
authors: Gumersindo
authors: G
authors: Fontán
authors: Maria Cruz
authors: MC
authors: García Rodríguez
mesh_terms: 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
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human