These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

213 related items for PubMed ID: 1975693

  • 21. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).
    Körkkö J, Ritvaniemi P, Haataja L, Kääriäinen H, Kivirikko KI, Prockop DJ, Ala-Kokko L.
    Am J Hum Genet; 1993 Jul; 53(1):55-61. PubMed ID: 8317498
    [Abstract] [Full Text] [Related]

  • 22. Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519.
    Holderbaum D, Malemud CJ, Moskowitz RW, Haqqi TM.
    Biochem Biophys Res Commun; 1993 May 14; 192(3):1169-74. PubMed ID: 8507190
    [Abstract] [Full Text] [Related]

  • 23.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 24.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 25.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 26. Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.
    Eyre DR, Weis MA, Moskowitz RW.
    J Clin Invest; 1991 Jan 14; 87(1):357-61. PubMed ID: 1985108
    [Abstract] [Full Text] [Related]

  • 27. Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders.
    Bleasel JF, Holderbaum D, Brancolini V, Moskowitz RW, Considine EL, Prockop DJ, Devoto M, Williams CJ.
    Hum Mutat; 1998 Jan 14; 12(3):172-6. PubMed ID: 9711874
    [Abstract] [Full Text] [Related]

  • 28.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 29.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 30.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 31.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 32.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 33.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 34. Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.
    Winterpacht A, Schwarze U, Mundlos S, Menger H, Spranger J, Zabel B.
    Hum Mol Genet; 1994 Oct 14; 3(10):1891-3. PubMed ID: 7849719
    [No Abstract] [Full Text] [Related]

  • 35. Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.
    Tromp G, Prockop DJ.
    Proc Natl Acad Sci U S A; 1988 Jul 14; 85(14):5254-8. PubMed ID: 2839839
    [Abstract] [Full Text] [Related]

  • 36.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 37. Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.
    Williams CJ, Rock M, Considine E, McCarron S, Gow P, Ladda R, McLain D, Michels VM, Murphy W, Prockop DJ.
    Hum Mol Genet; 1995 Feb 14; 4(2):309-12. PubMed ID: 7757086
    [No Abstract] [Full Text] [Related]

  • 38. Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation.
    Kuivaniemi H, Tromp G, Chu ML, Prockop DJ.
    Biochem J; 1988 Jun 15; 252(3):633-40. PubMed ID: 3421913
    [Abstract] [Full Text] [Related]

  • 39.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 40. Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA.
    Williams CJ, Harrison DA, Hopkinson I, Baldwin CT, Ahmad NN, Ala-Kokko L, Korn RM, Buxton PG, Dimascio J, Considine EL.
    Hum Mutat; 1992 Jun 15; 1(5):403-16. PubMed ID: 1301950
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 11.