Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.

To identify mutations that cause hereditary hemorrhagic telangiectasia (HHT, or Rendu-Osler-Weber syndrome), clinical evaluations and genetic studies were performed on 32 families. Linkage studies in four of eight families indicated an endoglin (ENG) gene mutation. ENG sequences of affected members...

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Main Authors: Shovlin, C L, Hughes, J M, Scott, J, Seidman, C E, Seidman, J G
格式: Artigo
語言:Inglês
出版: 1997
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Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715873/
https://ncbi.nlm.nih.gov/pubmed/9245986
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