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Volumn 43, Issue 3, 2006, Pages 255-258

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene

Author keywords

[No Author keywords available]

Indexed keywords

ELASTIN; TROPOELASTIN;

EID: 33645125433     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.034157     Document Type: Article
Times cited : (120)

References (14)
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  • 3
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    • An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa
    • Tassabehji M, Metcalfe K, Hurst J, Ashcroft GS, Kielty C, Wilmot C, Donnai D, Read AP, Jones O. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet 1998;7:1021-8.
    • (1998) Hum Mol Genet , vol.7 , pp. 1021-1028
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  • 4
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    • Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
    • Zhong MC, He L, Giro M, Yong SL, Tiller GE, Davidson JM. Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J Biol Chem 1999;274:981-6.
    • (1999) J Biol Chem , vol.274 , pp. 981-986
    • Zhong, M.C.1    He, L.2    Giro, M.3    Yong, S.L.4    Tiller, G.E.5    Davidson, J.M.6
  • 5
    • 20544459503 scopus 로고    scopus 로고
    • Autosomal dominant cutis laxa with severe lung disease: Synthesis and matrix deposition of mutant tropoelastin
    • Urban Z, Gao J, Pope FM, Davis EC. Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. J Invest Dermatol 2005;124:1193-9.
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    • Urban, Z.1    Gao, J.2    Pope, F.M.3    Davis, E.C.4
  • 7
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    • Supravalvular aortic stenosis: A splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts
    • Urban Z, Michels VV, Thibodeau SN, Donis-Keller H, Csiszar K, Boyd CD. Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum Genet 1999;104:135-42.
    • (1999) Hum Genet , vol.104 , pp. 135-142
    • Urban, Z.1    Michels, V.V.2    Thibodeau, S.N.3    Donis-Keller, H.4    Csiszar, K.5    Boyd, C.D.6
  • 8
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    • Two-dimensional echocardiographic aortic root dimensions in normal children and adults
    • Roman MJ, Devereux RB, Kramer-Fox R, O'Loughlin J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989;64:507-12.
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    • Echocardiographic reference values for aortic root size: The Framingham Heart Study
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    • Phenotypic alteration or vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome
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    • Ruigrok, Y.M.1    Seitz, U.2    Wolterink, S.3    Rinkel, G.J.4    Wijmenga, C.5    Urban, Z.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.