5'UTR mutations of <it>ENG </it>cause hereditary hemorrhagic telangiectasia

5'UTR mutations of <it>ENG </it>cause hereditary hemorrhagic telangiectasia

<p>Abstract</p> <p>Background</p> <p>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 recept...

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Bibliographic Details
Main Authors: Damjanovich Kristy, Langa Carmen, Blanco Francisco J, McDonald Jamie, Botella Luisa M, Bernabeu Carmelo, Wooderchak-Donahue Whitney, Stevenson David A, Bayrak-Toydemir Pinar
Format: Article
Language:English
Published: BMC 2011-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
5'UTR region
ENG
c.-127C > T
c.-9G > A
homozygous
Online Access:http://www.ojrd.com/content/6/1/85

Internet

http://www.ojrd.com/content/6/1/85

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