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