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Volumn 52, Issue 6, 2008, Pages 497-499

Correlation of the recurrent FBN1 mutation (c.364C>T) with a unique phenotype in a Chinese patient with Marfan syndrome

Author keywords

Atrial septal defect; Ectopia lentis; Fibrillin 1; Marfan syndrome; Mutation

Indexed keywords

FIBRILLIN 1; GENOMIC DNA; SILICONE OIL;

EID: 57849163748     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-008-0586-y     Document Type: Article
Times cited : (3)

References (5)
  • 3
    • 34547161310 scopus 로고    scopus 로고
    • Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients
    • C. Jin K. Yao J. Jiang X. Tang X. Shentu R. Wu 2007 Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients Mol Vis 13 1280 1284
    • (2007) Mol Vis , vol.13 , pp. 1280-1284
    • Jin, C.1    Yao, K.2    Jiang, J.3    Tang, X.4    Shentu, X.5    Wu, R.6
  • 4
    • 0036893786 scopus 로고    scopus 로고
    • Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus
    • P. Comeglio A.L. Evans G. Brice R.J. Cooling A.H. Child 2002 Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus Br J Ophthalmol 86 1359 1362
    • (2002) Br J Ophthalmol , vol.86 , pp. 1359-1362
    • Comeglio, P.1    Evans, A.L.2    Brice, G.3    Cooling, R.J.4    Child, A.H.5
  • 5
    • 0037388618 scopus 로고    scopus 로고
    • Defective secretion of recombinant fragments of fibrillin-1: Implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders
    • P. Whiteman P.A. Handford 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders Hum Mol Genet 12 727 737
    • (2003) Hum Mol Genet , vol.12 , pp. 727-737
    • Whiteman, P.1    Handford, P.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.