Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder caused by mutations in ENG, ACVRL1 and SMAD4, which function in regulating the transforming growth factor beta and bone morphogenetic protein signaling pathways. Symptoms of HHT can be present in individuals who t...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Hum Genome Var
Asıl Yazarlar: Hernandez, Felicia, Huether, Robert, Carter, Lester, Johnston, Tami, Thompson, Jennifer, Gossage, James R, Chao, Elizabeth, Elliott, Aaron M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2015
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785548/
https://ncbi.nlm.nih.gov/pubmed/27081547
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.40
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