Ontology highlight
ABSTRACT:
SUBMITTER: Li J
PROVIDER: S-EPMC5438610 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Oncotarget 20170401 17
As a rare type of Congenital Heart Defects (CHD), the genetic mechanism of Total Anomalous Pulmonary Venous Return (TAPVR) remains unknown, although previous studies have revealed potential disease-driving regions/genes. Blood samples collected from the 6 sporadic TAPVR cases and 81 non-TAPVR controls were subjected to whole exome sequencing. All detected variations were confirmed by direct Sanger sequencing. Here, we identified 2 non-synonymous missense mutations: c.C652T, p.R218W in activin A ...[more]