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Journal Abstract Search

169 related items for PubMed ID: 21384

  • 21. Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.
    Di Ferrante N, Leachman RD, Angelini P, Donnelly PV, Francis G, Almazan A.
    Connect Tissue Res; 1975; 3(1):49-53. PubMed ID: 240645
    [Abstract] [Full Text] [Related]

  • 22. Adenoviral gene transfer restores lysyl hydroxylase activity in type VI Ehlers-Danlos syndrome.
    Rauma T, Kumpumäki S, Anderson R, Davidson BL, Ruotsalainen H, Myllylä R, Hautala T.
    J Invest Dermatol; 2001 Apr; 116(4):602-5. PubMed ID: 11286629
    [Abstract] [Full Text] [Related]

  • 23. A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.
    Walker LC, Marini JC, Grange DK, Filie J, Yeowell HN.
    Mol Genet Metab; 1999 May; 67(1):74-82. PubMed ID: 10329027
    [Abstract] [Full Text] [Related]

  • 24. Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII.
    Ho KK, Kong RY, Kuffner T, Hsu LH, Ma L, Cheah KS.
    Hum Mutat; 1994 May; 3(4):358-64. PubMed ID: 8081389
    [Abstract] [Full Text] [Related]

  • 25. Defects in the biochemistry of collagen in diseases of connective tissue.
    Uitto J, Lichtenstein JR.
    J Invest Dermatol; 1976 Feb; 66(02):59-79. PubMed ID: 1448
    [Abstract] [Full Text] [Related]

  • 26. A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.
    Pousi B, Hautala T, Hyland JC, Schröter J, Eckes B, Kivirikko KI, Myllylä R.
    Hum Mutat; 1998 Feb; 11(1):55-61. PubMed ID: 9450904
    [Abstract] [Full Text] [Related]

  • 27. [Ehlers-Danlos syndromes. Their place among the collagen diseases].
    Dodinval P, Farjanel J, Lauras B.
    Pediatrie; 1985 Jun; 40(4):321-33. PubMed ID: 3909094
    [No Abstract] [Full Text] [Related]

  • 28. Molecular defects in the Ehlers-Danlos syndrome.
    Pinnell SR.
    J Invest Dermatol; 1982 Jul; 79 Suppl 1():90s-92s. PubMed ID: 7086195
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  • 30. [Biochemistry of collagen and the locomoter apparatus (Hereditary connective tissue diseases and rheumatic diseases. Part I].
    Peyron JG.
    Rev Rhum Mal Osteoartic; 1977 Jan; 44(1):67-72. PubMed ID: 13477
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  • 33. Molecular mechanisms of connective tissue abnormalities in the Ehlers-Danlos syndrome.
    Byers PH, Barsh GS, Holbrook KA.
    Coll Relat Res; 1981 Sep; 1(5):475-89. PubMed ID: 6125299
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  • 36. [Type VII C Ehlers-Danlos disease or human dermatosparaxia: the product of a fruitful union of so-called fundamental sciences with human and veterinary clinical medicine].
    Lapière CM, Nusgens BV.
    Bull Mem Acad R Med Belg; 1994 Sep; 149(5-7):228-34; discussion 235-6. PubMed ID: 7795546
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  • 37. An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.
    Yeowell HN, Walker LC, Neumann LM.
    Eur J Dermatol; 2005 Sep; 15(5):353-8. PubMed ID: 16172044
    [Abstract] [Full Text] [Related]

  • 38. Ehlers-Danlos syndrome type VI with normal lysyl hydroxylase activity cannot be explained by a defect in cellular uptake of ascorbic acid.
    Royce PM, Moser U, Steinmann B.
    Matrix; 1989 Mar; 9(2):147-9. PubMed ID: 2498625
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