Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB-Reference-Cited by-同舟云学术

Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB

Published:2013-04-30 Issue:17 Volume:22 Page:3438-3448
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Uebelhoer Melanie,Nätynki Marjut,Kangas Jaakko,Mendola Antonella,Nguyen Ha-Long,Soblet Julie,Godfraind Catherine,Boon Laurence M.,Eklund Lauri,Limaye Nisha,Vikkula Miikka

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/22/17/3438/17259479/ddt198.pdf

Reference36 articles.

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3. TIE2 gain-of-function mutation in a patient with pancreatic lymphangioma associated with blue rubber-bleb nevus syndrome: report of a case;Nobuhara;Surg. Today,2006

4. Variable somatic TIE2 mutations in half of sporadic venous malformations;Soblet;J. Mol. Syndromol.

5. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2;Vikkula;Cell,1996

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