A Novel EPAS1/HIF2A germline mutation in a Congenital Polycythemia with Paraganglioma

Congenital polycythemias have diverse etiologies, including mutations in the hypoxia sensing pathway. These include HIF2A at exon 12, VHL gene (Chuvash polycythemia), and PHD2 mutations, which in one family was also associated with recurrent pheochromocytoma/paraganglioma (PHEO/PGL). Over the past t...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Lorenzo, Felipe R., Yang, Chunzhang, Fui, Mark Ng Tang, Vankayalapati, Hariprasad, Zhuang, Zhengping, Huynh, Thanh, Grossmann, Mathis, Pacak, Karel, Prchal, Josef T.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2012
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3570726/
https://ncbi.nlm.nih.gov/pubmed/23090011
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00109-012-0967-z
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन