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Article

[Novel mutations of ITGB2 induced leukocyte adhesion defect type 1].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Aug 2018

Lin Y, Zheng H Y, Xian Y Y, Chang H, Lei K, Wang B T, Zhang Q Y

Abstract excerpt

Objective: To investigate the pathogenic mechanism of two novel ITGB2 mutations in leukocyte adhesion defect type 1 (LAD1). Methods: The clinical history and blood sample of an 11 years old patient admitted to Affiliated Hospital of Qingdao University in August 2014 were collected. Expression of CD18 (encoded by ITGB2) was analyzed by flow cytometry. Novel ITGB2 mutations were identified by next-generation...

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Topics

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Share to CD18 Antigens
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Integrin beta3

Share to Leukocyte-Adhesion Deficiency Syndrome

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Source

Identifiers

PMID: 30078245
DOI: 10.3760/cma.j.issn.0578-1310.2018.08.012

Genes

ITGB2
LAD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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