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Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative.

Endoglin (CD105), a component of the TGF-beta 1 receptor complex, is the target gene for the dominantly inherited vascular disorder hereditary hemorrhagic telangiectasia type 1 (HHT1). We have identified a novel endoglin splice site mutation, leading to an in-frame deletion of exon 3, in a new-born...

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Main Authors: Pece, N, Vera, S, Cymerman, U, White, R I, Wrana, J L, Letarte, M
Format: Artigo
Jezik:Inglês
Izdano: 1997
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC508458/
https://ncbi.nlm.nih.gov/pubmed/9366572
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