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Volumn 7, Issue , 2013, Pages

Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: A case report

Author keywords

[No Author keywords available]

Indexed keywords

C REACTIVE PROTEIN; CARCINOEMBRYONIC ANTIGEN; COLLAGEN TYPE 3; COLLAGEN TYPE 3 A1; CREATINE KINASE; D DIMER; FIBRINOGEN; IMMUNOGLOBULIN G; IMMUNOGLOBULIN G4; LACTATE DEHYDROGENASE; NEUTROPHIL CYTOPLASMIC ANTIBODY; UNCLASSIFIED DRUG;

EID: 84873043254     PISSN: None     EISSN: 17521947     Source Type: Journal    
DOI: 10.1186/1752-1947-7-35     Document Type: Article
Times cited : (8)

References (15)
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    • 10.1002/(SICI)1096-8628(19980428)77:1<31: AID-AJMG8>3.0.CO;2-O 9557891
    • Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). P Beighton, A De Paepe, B Steinmann, P Tsipouras, RJ Wenstrup, Am J Med Genet 1998 77 31 37 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O 9557891
    • (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
  • 3
    • 33846592935 scopus 로고    scopus 로고
    • Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan
    • 10.1253/circj.71.261 17251678
    • Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan. A Watanabe, T Kosho, T Wada, N Sakai, M Fujimoto, Y Fukushima, T Shimada, Circ J 2007 71 261 265 10.1253/circj.71.261 17251678
    • (2007) Circ J , vol.71 , pp. 261-265
    • Watanabe, A.1    Kosho, T.2    Wada, T.3    Sakai, N.4    Fujimoto, M.5    Fukushima, Y.6    Shimada, T.7
  • 4
    • 0034054910 scopus 로고    scopus 로고
    • Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
    • 10.1056/NEJM200003093421001 10706896
    • Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. M Pepin, U Schwarze, A Superti-Furga, PH Byers, N Engl J Med 2000 342 673 680 10.1056/NEJM200003093421001 10706896
    • (2000) N Engl J Med , vol.342 , pp. 673-680
    • Pepin, M.1    Schwarze, U.2    Superti-Furga, A.3    Byers, P.H.4
  • 5
    • 55049111910 scopus 로고    scopus 로고
    • Vascular type of Ehlers-Danlos syndrome
    • 10.1272/jnms.75.254
    • Vascular type of Ehlers-Danlos syndrome. A Watanabe, T Shimada, J Nihon Med Sch 2008 75 254 261 10.1272/jnms.75.254
    • (2008) J Nihon Med Sch , vol.75 , pp. 254-261
    • Watanabe, A.1    Shimada, T.2
  • 7
    • 0027936493 scopus 로고
    • A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen
    • 10.1093/hmg/3.9.1617 7833919
    • A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen. P Narcisi, AJ Richards, SD Ferguson, FM Pope, Hum Mol Genet 1994 3 1617 1620 10.1093/hmg/3.9.1617 7833919
    • (1994) Hum Mol Genet , vol.3 , pp. 1617-1620
    • Narcisi, P.1    Richards, A.J.2    Ferguson, S.D.3    Pope, F.M.4
  • 9
    • 84873709529 scopus 로고    scopus 로고
    • Nationwide survey of Ehlers-Danlos syndrome, vascular type: A preliminary study supported by research on intractable disease of ministry of health, welfare, and labor
    • Nationwide survey of Ehlers-Danlos syndrome, vascular type: a preliminary study supported by research on intractable disease of ministry of health, welfare, and labor. T Kosho, A Watanabe, H Morisaki, Y Fukushima, A Hatamochi, Jap J Genet Counsel 2010 31 157 161
    • (2010) Jap J Genet Counsel , vol.31 , pp. 157-161
    • Kosho, T.1    Watanabe, A.2    Morisaki, H.3    Fukushima, Y.4    Hatamochi, A.5
  • 11
    • 0030467134 scopus 로고    scopus 로고
    • Respiratory complications of Ehlers-Danlos syndrome type IV
    • 9147885
    • Respiratory complications of Ehlers-Danlos syndrome type IV. SB Dowton, S Pincott, L Demmer, Clin Genet 1996 50 510 514 9147885
    • (1996) Clin Genet , vol.50 , pp. 510-514
    • Dowton, S.B.1    Pincott, S.2    Demmer, L.3
  • 14
    • 34548760860 scopus 로고    scopus 로고
    • Ehlers-Danlos syndrome type IV
    • 10.1186/1750-1172-2-32
    • Ehlers-Danlos syndrome type IV. DP Germain, Orpanet J Rare Dis 2007 2 32 10.1186/1750-1172-2-32
    • (2007) Orpanet J Rare Dis , vol.2 , pp. 32
    • Germain, D.P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.