Associated Papers
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
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
Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis.
Zhang YN et al.
Bmc Neurology, 2019
Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management.
Vince N et al.
Human Immunology, 2018
Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.
Grodecká L et al.
Clinical Immunology (orlando, Fla.), 2017
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).
Chen XF et al.
Medicine, 2016
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.
Fiorini M et al.
Human Mutation, 2004
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