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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479573/ https://www.ncbi.nlm.nih.gov/pubmed/32953865 http://dx.doi.org/10.12998/wjcc.v8.i17.3859 |