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Volumn 22, Issue 4, 2007, Pages 698-705

Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV

Author keywords

Carotid cavernous sinus fistula; COL3A1; Dissection; Ehlers Danlos syndrome type IV; Mutation

Indexed keywords


EID: 34548550280     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2007.22.4.698     Document Type: Article
Times cited : (12)

References (11)
  • 2
    • 0032574641 scopus 로고    scopus 로고
    • Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)
    • Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998; 77: 31-7.
    • (1998) Am J Med Genet , vol.77 , pp. 31-37
    • Beighton, P.1    De Paepe, A.2    Steinmann, B.3    Tsipouras, P.4    Wenstrup, R.J.5
  • 8
    • 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: 561-3.
    • (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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.