BTKbase
收藏国家生物信息中心2025-10-11 更新2025-03-15 收录
下载链接：
http://structure.bmc.lu.se/idbase/BTKbase/
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资源简介：
X-linked agammaglobulinemia (XLA) is a hereditary immunodeficiency caused by mutations in the gene encoding Bruton tyrosine kinase (BTK). XLA-causing mutations are collected in a mutation database (BTKbase). For each patient the following information is given (when available): the identification of the entry, a plain English description of the mutation followed by a reference, formal characterization of the mutation, and the various parameters from the patient. BTKbase is implemented with the MUTbase program suite, which provides an easy, interactive, and quality controlled submission of information to mutation databases.
提供机构：
FI-33014 University of Tampere
创建时间：
2018-01-26
