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Article

[Genetic study of an X-linked agammaglobulinemia pedigree caused by an BTK mutation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2021

Wei Chenxi, Yang Rujing, Yuan Xiaogeng, Yu Shihui, Qin Jianping, Tian Xinxian, Zhang Min

Abstract excerpt

OBJECTIVE: To explore the genetic pathogenesis of X-linked agammaglobulinemia in two patients for clinical diagnosis and family counseling. METHODS: Data was collected from the patients' family including clinical information, blood immunoglobulin level, as well as classification and subgrouping of B lymphocytes. Gene mutations were screened by whole exome sequencing (WES) through next-generation sequencing (NGS),...

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Identifiers

PMID: 34729748
DOI: 10.3760/cma.j.cn511374-20200519-00349

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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