Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton’s tyrosine kinase (BTK) gene mutations

BACKGROUND: X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disease for which recurrent severe infection is the major clinical symptom. BTK is the main causative gene, with X chromosome recessive inheritance. However, the mutations reported to date do not fully explain the disorder. ME...

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Detalles Bibliográficos
Autores principales: Gao, Shanshan, Hu, Shuang, Duan, Huikun, Wang, Li, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7302398/
https://www.ncbi.nlm.nih.gov/pubmed/32552675
http://dx.doi.org/10.1186/s12881-020-01063-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7302398/
https://www.ncbi.nlm.nih.gov/pubmed/32552675
http://dx.doi.org/10.1186/s12881-020-01063-5

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