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Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.

Pediatric blood & cancer - 1 Aug 2012

Park Kyoung-Jin, Chung Hae-Sun, Lee Ki-O, Park In-Ae, Kim Sun-Hee, Kim Hee-Jin

Abstract excerpt

Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder caused by defective glycoprotein, αIIb and β3, encoded by ITGA2B and ITGB3 genes, respectively. We herein describe four unrelated Korean patients with genetically confirmed GT. Two patients were homozygous for c.1913+5G>T (IVS11+5G>T) mutation of ITGB3 with a signature of founder effect. The other two patients were compound heterozygous for...

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PMID: 22190468
DOI: 10.1002/pbc.24041

Genes

ITGB3

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