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Case Reports
. 2005 Dec;68(6):561-3.
doi: 10.1111/j.1399-0004.2005.00535.x.

Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome

C-S Ki, D-K Jin, S H Chang, J-E Kim, J-W Kim, B K Park, J-H Choi, I S Park, H-W Yoo
Case Reports

Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome

C-S Ki et al. Clin Genet. 2005 Dec.
No abstract available

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Comment on

  • Heterozygous TGFBR2 mutations in Marfan syndrome.
    Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Mizuguchi T, et al. Nat Genet. 2004 Aug;36(8):855-60. doi: 10.1038/ng1392. Epub 2004 Jul 4. Nat Genet. 2004. PMID: 15235604 Free PMC article.

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