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The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.
Pawlikowska L, Nelson J, Guo DE, McCulloch CE, Lawton MT, Young WL, Kim H, Faughnan ME; Brain Vascular Malformation Consortium HHT Investigator Group. Pawlikowska L, et al. Among authors: kim h. Am J Med Genet A. 2015 Jun;167(6):1262-7. doi: 10.1002/ajmg.a.36936. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25847705 Free PMC article.
Arteriovenous malformation.
Young WL, Kwok PY, Pawlikowska L, Lawton MT, Kim H, Hysi PG, Marchuk DA. Young WL, et al. Among authors: kim h. J Neurosurg. 2007 Apr;106(4):731-2; author reply 732-3. doi: 10.3171/jns.2007.106.4.731. J Neurosurg. 2007. PMID: 17432733 No abstract available.
Association of tumor necrosis factor-alpha-238G>A and apolipoprotein E2 polymorphisms with intracranial hemorrhage after brain arteriovenous malformation treatment.
Achrol AS, Kim H, Pawlikowska L, Trudy Poon KY, McCulloch CE, Ko NU, Johnston SC, McDermott MW, Zaroff JG, Lawton MT, Kwok PY, Young WL. Achrol AS, et al. Among authors: kim h. Neurosurgery. 2007 Oct;61(4):731-9; discussion 740. doi: 10.1227/01.NEU.0000298901.61849.A4. Neurosurgery. 2007. PMID: 17986934 Free PMC article.
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