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
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...
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Format: | Thesis |
Published: |
2014
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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/ |
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Institution: | Universiti Malaya |