Article
5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.
Orphanet journal of rare diseases - 22 Dec 2011
Damjanovich Kristy, Langa Carmen, Blanco Francisco J, McDonald Jamie, Botella Luisa M, Bernabeu Carmelo, Wooderchak-Donahue Whitney, Stevenson David A, Bayrak-Toydemir Pinar
Abstract excerpt
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1) or Endoglin (ENG) gene. However, in approximately 15% of cases, sequencing analysis and deletion/duplication testing fail to identify mutations...
Topics
- 5' Untranslated Regions
- Adolescent
- Adult
- Aged
- Animals
- Antigens, CD
- Base Sequence
- COS Cells
- Child
- Child, Preschool
- Endoglin
- Female
- Humans
- Male