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Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.
Xin B, Jones S, Puffenberger EG, Hinze C, Bright A, Tan H, Zhou A, Wu G, Vargus-Adams J, Agamanolis D, Wang H. Xin B, et al. Among authors: wang h. Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5372-7. doi: 10.1073/pnas.1014265108. Epub 2011 Mar 14. Proc Natl Acad Sci U S A. 2011. PMID: 21402907 Free PMC article.
A nonsense mutation of PEPD in four Amish children with prolidase deficiency.
Wang H, Kurien BT, Lundgren D, Patel NC, Kaufman KM, Miller DL, Porter AC, D'Souza A, Nye L, Tumbush J, Hupertz V, Kerr DS, Kurono S, Matsumoto H, Scofield RH. Wang H, et al. Am J Med Genet A. 2006 Mar 15;140(6):580-5. doi: 10.1002/ajmg.a.31134. Am J Med Genet A. 2006. PMID: 16470701
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