Fang-Mei Luo Liang-Liang Fan Yue Sheng Yi Dong Lv Liu
10.3389/fped.2021.679279
Front Pediatr
2021 Jun 18;9:679279.
actn1 mutation macrothrombocytopenia mild bleeding non-sense-mediated mrna decay whole-exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/34222148/
Case Reports
PMC8253534
34222148
Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α -Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding
2021