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Article

A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Sept 2009

Imai Chihaya, Kunishima Shinji, Takachi Takayuki, Iwabuchi Haruko, Nemoto Tae, Imamura Masaru, Uchiyama Makoto

Abstract excerpt

We present a patient with Bernard-Soulier syndrome harboring a novel mutation. Flow cytometric analysis showed that the glycoprotein (GP) Ib/IX complex was absent from the platelet surface. By immunoblotting, GPIbalpha, GPIbbeta and GPIX were not detected in the platelet lysates. Glycocalicin, the soluble GPIbalpha fragment, was also absent in the plasma. Genetic analysis revealed a novel homozygous 8-base pair...

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PMID: 19448529
DOI: 10.1097/MBC.0b013e32832b27fa

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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