Multiple Sequence Variants in Hereditary Hemorrhagic Telangiectasia Cases: Illustration of Complexity in Molecular Diagnostic Interpretation

Hereditary hemorrhagic telangiectasia is an autosomal dominant disease caused by mutations in the ACVRL1 and ENG genes characterized by arterio-venous malformations and telangiectases. Over 700 mutations have been described in these two genes, and missense mutations are common. We describe 10 cases...

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Hlavní autoři: McDonald, Jamie, Gedge, Friederike, Burdette, Allene, Carlisle, James, Bukjiok, Changkuoth Jock, Fox, Michelle, Bayrak-Toydemir, Pınar
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Investigative Pathology 2009
Témata:
Regular Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2765756/
https://ncbi.nlm.nih.gov/pubmed/19767588
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2009.080148
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