|
|||||
|
|
Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension |
|
| Authors: | Jennifer A Johnson Cindy L Vnencak-Jones Joy D Cogan James E Loyd James West |
| Affiliation: | (1) Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA;(2) Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA;(3) Department of Pathology, Vanderbilt University Medical Center, Nashville, TN, USA |
| Abstract: | BackgroundCopy-number variations (CNVs) are structural variations in the genome involving 1 kb to 3 mb of DNA. CNV has been reported within intron 1 of the BMPR2 gene. We propose that CNV could affect phenotype in familial and/or sporadic pulmonary arterial hypertension (PAH) by altering gene expression. |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |