Identification of one novel pathogenic <i>ITGB3</i> mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia

Lu, Zhengjing; Nikuze, Lauriane; Zhong, Zhou-Lin; Li, Fang; Zhang, Fuyong; Liang, Kairong; Wei, Manlv; Wei, Hongying

doi:10.1080/09537104.2019.1615614

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2019

DOI: 10.1080/09537104.2019.1615614

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Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia

Zhengjing Lu

Lauriane Nikuze

Zhou-Lin Zhong

et al.

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2023

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Effect of c.1431C > T mutation, a causative mutation of Glanzmann's thrombasthenia, on ITGB3 splicing, gene and protein expression

Wang,

Lai,

et al. 2023

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Effect of c.1431C > T mutation, a causative mutation of Glanzmann's thrombasthenia, on ITGB3 splicing, gene and protein expression

Wang,

Lai,

et al. 2023

Gene

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Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia

Cited by 1 publication

References 22 publications

Effect of c.1431C > T mutation, a causative mutation of Glanzmann's thrombasthenia, on ITGB3 splicing, gene and protein expression

Effect of c.1431C > T mutation, a causative mutation of Glanzmann's thrombasthenia, on ITGB3 splicing, gene and protein expression

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