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Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis

Cerebral cavernous malformations (CCMs) are vascular lesions affecting the central nervous system. CCM occurs either sporadically or in an inherited, autosomal dominant manner. Constitutional (germline) mutations in any of three genes, KRIT1, CCM2 and PDCD10, can cause the inherited form. Analysis o...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: McDonald, David A., Shi, Changbin, Shenkar, Robert, Gallione, Carol J., Akers, Amy L., Li, Stephanie, De Castro, Nicholas, Berg, Michel J., Corcoran, David L., Awad, Issam A., Marchuk, Douglas A.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2014
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4103679/
https://ncbi.nlm.nih.gov/pubmed/24698976
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu153
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