Article
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia - npj Genomic Medicine
Rating:
0.0
Views:
65
Likes:
1
Library:
1
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, autosomal dominant, vascular disorder. About 80% of cases are caused by pathogenic variants in ACVRL1 (also known as ALK1) and ENG, with the remaining cases being unexplained. We identified two variants, c.-79C>T and c.-68G>A, in the 5'UTR of ENG in two unrelated patients. They create upstream AUGs at the origin of upstream overlapping
Rate This Post
Rate The Educational Value
Rate The Ease of Understanding and Presentation
Interesting or Boring? Rate the Entertainment Value