Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

Mutations in the angiopoietin receptor TIE2/TEK have been identified as the cause for autosomal dominantly inherited cutaneomucosal venous malformation (VMCM). Thus far, two specific germline substitutions (R849W and Y897S), located in the kinase domain of TIE2, have been reported in five families....

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Hauptverfasser: Wouters, Vinciane, Limaye, Nisha, Uebelhoer, Melanie, Irrthum, Alexandre, Boon, Laurence M, Mulliken, John B, Enjolras, Odile, Baselga, Eulalia, Berg, Jonathan, Dompmartin, Anne, Ivarsson, Sten A, Kangesu, Loshan, Lacassie, Yves, Murphy, Jill, Teebi, Ahmad S, Penington, Anthony, Rieu, Paul, Vikkula, Miikka
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2010
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2841708/
https://ncbi.nlm.nih.gov/pubmed/19888299
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.193
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