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Article

Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Kato Taichi, Kosaka Kazuki, Kimura Misa, Imamura Shin-Ichiro, Yamada Osamu, Iwai Kazumasa, Ando Masahiko, Joh-o Kunitaka, Kuroe Kenji, Ohtake Akira, Takao Atsuyoshi, Momma Kazuo, Matsuoka Rumiko

Abstract excerpt

PURPOSE: To elucidate whether thrombocytopenia in 22q11.2 deletion syndrome patients is associated with the hemizygosity of glycoprotein Ib-beta and to clarify the correlation of phenotype and genotype of this gene in 22q11.2 deletion syndrome patients with thrombocytopenia. METHODS: Platelet number, mean platelet volume, platelet agglutination, and the protein level of glycoprotein Ib-beta were measured in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12644781
DOI: 10.1097/01.GIM.0000056828.03164.30

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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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