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Article

[Molecular biological study of glycoprotein IX gene defect in Bernard-Soulier syndrome].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Sept 2003

Zhao Xiao-juan, Wang Zhao-yue, Duan Wei-ming, Fu Jian-xin, Lu Ming-en, Wang Jia-min, Bai Xia, Ruan Chang-geng

Abstract excerpt

OBJECTIVE: To identify a mutation G2113-->A in the glycoprotein (GP)IX gene associated with Bernard-Soulier syndrome (BSS) and to investigate BSS pathogenesis. METHODS: Allele-specific restriction enzyme was used to analyze the samples of patient, her mother, her brother and 40 healthy volunteers...

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PMID: 14575593

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14575593-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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