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Article

Genotype-phenotype correlation in Bruton's tyrosine kinase deficiency.

Journal of pediatric hematology/oncology - 1 Sept 2008

Teimourian Shahram, Nasseri Saeed, Pouladi Nima, Yeganeh Mehdi, Aghamohammadi Asghar

Abstract excerpt

Bruton's tyrosine kinase (Btk) belongs to the Tec family of nonreceptor protein tyrosine kinases. Mutations in the BTK gene cause X-linked agammaglobulinemia (XLA); a primary immunodeficiency disorder in human. No clear genotype-phenotype correlation has been established in XLA so far. To determine how differently mutations in BTK affect the severity of the disease and if BTK promoter polymorphic variant or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18776760
DOI: 10.1097/MPH.0b013e318180bb45

Genes

BTK
TEC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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