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Novel deletion mutation in Bruton’s tyrosine kinase results in X-linked agammaglobulinemia: A case report

BACKGROUND: X-linked agammaglobulinemia is a primary immunodeficiency disease caused by gene mutations of Bruton’s tyrosine kinase (BTK). We found a new mutation point and summarized the correlation analysis and performed a literature review. CASE SUMMARY: The proband was a 5-year-old boy. He was ad...

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Podrobná bibliografie
Vydáno v:World J Clin Cases
Hlavní autoři: Hu, Xiao-Mei, Yuan, Ke, Chen, Hong, Chen, Chun, Fang, Yan-Lan, Zhu, Jian-Fang, Liang, Li, Wang, Chun-Lin
Médium: Artigo
Jazyk:Inglês
Vydáno: Baishideng Publishing Group Inc 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7479573/
https://ncbi.nlm.nih.gov/pubmed/32953865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12998/wjcc.v8.i17.3859
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