Article
Effect of c.1431C > T mutation, a causative mutation of Glanzmann's thrombasthenia, on ITGB3 splicing, gene and protein expression.
Gene - 20 Dec 2023
Wang Dayan, Lai Panjian, Lu Qiaochun, El-Magd Mohammed A, Li Xiaobing
Abstract excerpt
BACKGROUND/AIM: Recently, it was reported that the non-synonymous c.1431C > T (p. G477=) mutation of the integrin subunit β3 (ITGB3) gene is the cause of Glanzmann's thrombasthenia (GT). However, the functional consequences of this mutation on the ITGB3 gene and protein expression remain to be elucidated. Therefore, this study was conducted to cover this scientific shortage. METHODS: Peripheral blood samples were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.