Identification of a novel invariant splice site mutation of Bruton's tyrosine kinase (BTK) gene in a Malaysian family with X-linked agammaglobulinemia / Chear Chai Teng

• Main Author: Chear, Chai Teng
• Format: Thesis
• Published: 2014
• Subjects: Q Science (General); QH Natural history
• Online Access: http://studentsrepo.um.edu.my/4881/1/Identification_of_a_novel_invariant_splice_site_mutation_of_BTK_gene_in_a_Malaysian_family_with_XLA_Chear_CT_SGR110055.pdf; http://studentsrepo.um.edu.my/4881/
• Institution: Universiti Malaya

X-linked agammaglobulinemia (XLA) is a rare genetic disorder caused by mutations in the Bruton’s tyrosine kinase (BTK) gene. These mutations cause defects in early B cell development. A patient with no circulating B cells and low serum immunoglobulin isotypes was studied as were his mother and siste...