Identification of four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia

CONCLUSION: This study makes definitive diagnosis for 6 families with suspected XLA and further expands the spectrum of BTK mutations, providing new information for the diagnosis of the disease.PMID:35245483 | DOI:10.1016/j.cca.2022.02.019

Source: International Journal of Clinical Chemistry - March 4, 2022 Category: Chemistry Authors: Qimin Zhou Yanling Teng Jianyan Pan Qingxin Shi Yingdi Liu Desheng Liang Zhuo Li Lingqian Wu Source Type: research