Clinical case of primary immunodeficiency: X-linked agammaglobulinemia
Aclinical case ofprimary immunodeficiency state (PIDS) is described: X-linked agammaglobulinemia in the boy of 8 years old. The results of molecular genetic studies: gene btk (ex 1-19) genome version GRCh38.p5, transcript version ENST00000308731 single nucleotide substitution identified с.1027С &...
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Autores principales: | E. V. Kuvschinova, L. M. Kurtasova, A. G. Borisov, A. R. Schmidt, T. A. Gerasimova |
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Formato: | article |
Lenguaje: | RU |
Publicado: |
SPb RAACI
2020
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Materias: | |
Acceso en línea: | https://doaj.org/article/a7b89d84647847978ab456b0272a78b1 |
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