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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: | , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2009
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| 主題: | |
| 在線閱讀: | 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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