Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.

@article{Abdalla2005NovelMA,
  title={Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.},
  author={Salma A Abdalla and Urszula Cymerman and Diane E Rushlow and Ning Chen and Gwendolyn P Stoeber and Edmond G. Lemire and Michelle Letarte},
  journal={Human mutation},
  year={2005},
  volume={25 3},
  pages={320-1}
}
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disorder caused by mutations in Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes. We performed molecular characterization in clinically affected probands of 31 HHT families and detected a total of 28 different mutations in the two genes, including four shared by more than one family. Twelve mutations were identified in the ENG gene, six of which were novel and comprised two nonsense mutations in… CONTINUE READING
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