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

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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Bibliographic Details
Main Author: Chear, Chai Teng
Format: Thesis
Published: 2014
Subjects:
Q Science (General)
QH Natural history
Online Access:http://studentsrepo.um.edu.my/4881/
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

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