Associated Papers
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
35874699 (PubMed )
Supplement: Table_1.xlsx › Suppl_table_1
Novel deletion mutation in Bruton's tyrosine kinase results in X-linked agammaglobulinemia: A case report.
Hu XM et al.
World Journal of Clinical Cases, 2020
Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.
Carrillo-Tapia E et al.
Expert Review of Clinical Immunology, 2018
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).
Chen XF et al.
Medicine, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
SH2-dependent autophosphorylation within the Tec family kinase Itk.
Joseph RE et al.
Journal of Molecular Biology, 2009
Genome wide analysis of pathogenic SH2 domain mutations.
Lappalainen I et al.
Proteins, 2008
Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA).
Velickovic M et al.
Human Mutation, 2004
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