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Volumn 33, Issue 1, 2010, Pages

Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN SERINE THREONINE KINASE; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR BETA TYPE II RECEPTOR; TRANSFORMING GROWTH FACTOR-BETA TYPE II RECEPTOR;

EID: 77249177048     PISSN: 0147958X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (17)
  • 9
    • 33845882724 scopus 로고    scopus 로고
    • Recent progress in genetics of Marfan syndrome and Marfan-associated disorders
    • Mizuguchi T, Matsumoto N: Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet 2007; 52:1- 12.
    • (2007) J Hum Genet , vol.52 , pp. 1-12
    • Mizuguchi, T.1    Matsumoto, N.2
  • 10
    • 49649108593 scopus 로고    scopus 로고
    • New insights in the pathogenesis of aortic aneurysms
    • Loeys B, De Paepe A: New insights in the pathogene- sis of aortic aneurysms. Verh K Acad Geneeskd Belg 2008; 70:69- 84.
    • (2008) Verh K Acad Geneeskd Belg , vol.70 , pp. 69-84
    • Loeys, B.1    De Paepe, A.2
  • 11
    • 33747016789 scopus 로고    scopus 로고
    • Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders
    • Matyas G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B: Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat 2006; 27:760- 769.
    • (2006) Hum Mutat , vol.27 , pp. 760-769
    • Matyas, G.1    Arnold, E.2    Carrel, T.3    Baumgartner, D.4    Boileau, C.5    Berger, W.6    Steinmann, B.7
  • 12
    • 28644435495 scopus 로고    scopus 로고
    • 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
    • Ki CS, Jin DK, Chang SH, Kim JE, Kim JW, Park BK, Choi JH, Park IS, Yoo HW: 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. Clin Genet 2005: 68: 561-563.
    • (2005) Clin Genet , vol.68 , pp. 561-563
    • Ki, C.S.1    Jin, D.K.2    Chang, S.H.3    Kim, J.E.4    Kim, J.W.5    Park, B.K.6    Choi, J.H.7    Park, I.S.8    Yoo, H.W.9
  • 14
    • 34248149387 scopus 로고    scopus 로고
    • Yetman AT, Beroukhim RS, Ivy DD, Manchester D
    • Yetman AT, Beroukhim RS, Ivy DD, Manchester D: In importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period. Pediatrics 2007; 119:e1199- e1202.
    • (2007) Pediatrics , vol.119
  • 16
    • 0032065913 scopus 로고    scopus 로고
    • HNPCC associated with germline mutation in the TGF-b type II receptor gene
    • Lu SL, Kawabata M, Imamura T: HNPCC associated with germline mutation in the TGF-b type II receptor gene. Nat Genet 1998; 19: 17- 18.
    • (1998) Nat Genet , vol.19 , pp. 17-18
    • Lu, S.L.1    Kawabata, M.2    Imamura, T.3
  • 17
    • 36749061893 scopus 로고    scopus 로고
    • Erratum: A 'silent' polymorphism in the MDR1 gene changes substrate specificity (Science (525))
    • DOI 10.1126/science.318.5855.1382
    • Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE: A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science 2007; 318:1382- 1383. (Pubitemid 350208938)
    • (2007) Science , vol.318 , Issue.5855 , pp. 1382-1383
    • Kimchi-Sarfaty, C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.