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Article

Maternal germinal mosaicism of X-linked agammaglobulinemia.

American journal of medical genetics - 15 Mar 2001

Sakamoto M, Kanegane H, Fujii H, Tsukada S, Miyawaki T, Shinomiya N

Abstract excerpt

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by abnormalities in tyrosine kinase (BTK), and is characterized by a deficiency of peripheral blood B cells. We studied cytoplasmic expression of BTK protein and analyzed the BTK gene (BTK) in peripheral blood mononuclear cells from two siblings with XLA and additional family members. Cytoplasmic expression of BTK protein in monocytes was not...

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Source

Identifiers

PMID: 11241495
DOI: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1159>3.0.co;2-m

Genes

BTK

Provenance

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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