A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations

Mutations in the ACTA2 gene lead to diffuse and diverse vascular diseases; the Arg179His mutation is associated with an early onset severe phenotype due to global smooth muscle dysfunction. Cerebrovascular disease associated with ACTA2 mutations has been likened to moyamoya disease, but appears to h...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Munot, Pinki, Saunders, Dawn E., Milewicz, Dianna M., Regalado, Ellen S., Ostergaard, John R., Braun, Kees P., Kerr, Timothy, Lichtenbelt, Klaske D., Philip, Sunny, Rittey, Christopher, Jacques, Thomas S., Cox, Timothy C., Ganesan, Vijeya
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Oxford University Press 2012
विषय:
Original Articles
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3407424/
https://ncbi.nlm.nih.gov/pubmed/22831780
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws172
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