Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.

@article{FernndezL2006MutationSO,
  title={Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.},
  author={Africa Fern{\'a}ndez-L and Francisco S{\'a}nz-Rodr{\'i}guez and Roberto Zarrabeitia and Alfonso P{\'e}rez-Molino and Carmelo Morales and Carlos M Restrepo and Jos{\'e} Robinson Ram{\'i}rez and Eliecer Coto and Gennaro Mariano Lenato and Carmelo Bernabeu and Luisa M Botella},
  journal={Human mutation},
  year={2006},
  volume={27 3},
  pages={295}
}
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant and age-dependent vascular disorder originated by mutations in Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes. The first large series HHT analysis in Spanish population has identified mutations in 17 unrelated families. Ten different mutations in ALK1 and six in ENG genes were found. Six unrelated families had a mutation in ENG gene, four representing new mutations, p.Y258fs, pV323fs, p.F279fs (c… CONTINUE READING
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