共 50 条
- [46] Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Probably Caused by DSG2 p.Val149Ile Mutation as Genetic Background When Carrying with Heterozygous PRRT2 p.Arg217ProfsTer8 Mutation: A Case Report INTERNATIONAL MEDICAL CASE REPORTS JOURNAL, 2021, 14 : 307 - 313
- [48] Correction: Whole-exome sequencing identifies a novel CCDC151 mutation, c.325GT (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus Journal of Human Genetics, 2019, 64 : 829 - 829
- [49] Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus Journal of Human Genetics, 2019, 64 : 249 - 252