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Volumn 16, Issue 3, 2002, Pages 391-397

Clinical and genetic features of vascular Ehlers-Danlos syndrome

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 3;

EID: 0036314742     PISSN: 08905096     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10016-001-0229-y     Document Type: Review
Times cited : (138)

References (49)
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    • The Ehlers-Danlos syndrome: A heritable collagen disorder as cause of bleeding
    • (1996) Thromb Haemost , vol.75 , pp. 379-386
    • De Paepe, A.1
  • 23
    • 0027730917 scopus 로고
    • Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections
    • (1993) Neurology , vol.43 , pp. 2652-2658
    • Kuivaniemi, H.1    Prockop, D.J.2    Wu, Y.3
  • 24
    • 0021329796 scopus 로고
    • Colon perforation in Ehlers-Danlos syndrome: Report of two cases and review of the literature
    • (1984) Am J Surg , vol.147 , pp. 410-413
    • Sykes, E.M.1
  • 25
    • 0021280629 scopus 로고
    • Ehlers-Danlos syndrome type IV: Dramatic, deceptive, and deadly
    • (1984) Am J Surg , vol.147 , pp. 703-704
    • Sparkman, R.S.1
  • 36
    • 0033819621 scopus 로고    scopus 로고
    • Collagens: Building blocks at the end of the development line
    • (2000) Clin Genet , vol.58 , pp. 270-279
    • Byers, P.H.1
  • 41
    • 0023878955 scopus 로고
    • Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to a atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian phenotype
    • (1988) Hum Genet , vol.78 , pp. 276-281
    • Nicholls, A.C.1    De Paepe, A.2    Narcisi, P.3
  • 44
    • 0026724603 scopus 로고
    • A single base mutation in the gene for type III collagen (COL3A1) converts glycine to glutamic acid in a family with EhlersDanlos syndrome type IV: An unaffected family member is mosaic for the mutation
    • (1992) Hum Genet , vol.8 , pp. 414-418
    • Richards, A.J.1    Ward, P.N.2    Narcisi, P.3
  • 45
    • 0031458795 scopus 로고    scopus 로고
    • Splicing defects in the CODA1 gene marked preference for 5′ (donor) splice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV
    • (1997) Am J Hum Genet , vol.61 , pp. 276-1286
    • Schwarze, U.1    Goldstein, J.A.2    Byers, P.H.3
  • 48
    • 0019436389 scopus 로고
    • Ultrastructural characteristics of the skin in a form of the Ehlers-Danlos type IV: Storage in the rough endoplasmic reticulum
    • (1981) Lab Invest , vol.44 , pp. 342-350
    • Holbrook, K.A.1    Byers, P.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.