Hereditary haemorrhagic telangiectasia: a clinical and scientific review

The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT) affects 1 in 5–8000 people. Genes mutated in HHT (most commonly for endoglin or activin receptor-like kinase (ALK1)) encode proteins that modulate transforming growth factor (TGF)-β superfamily signalling in vascular endotheli...

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Main Authors: Govani, Fatima S, Shovlin, Claire L
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2009
Teme:
Practical Genetics
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986493/
https://ncbi.nlm.nih.gov/pubmed/19337313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.35
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