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Journal Abstract Search

123 related items for PubMed ID: 7705841

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  • 2. Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).
    Williams CJ, Considine EL, Knowlton RG, Reginato A, Neumann G, Harrison D, Buxton P, Jimenez S, Prockop DJ.
    Hum Genet; 1993 Nov; 92(5):499-505. PubMed ID: 8244341
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  • 6. Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.
    Chan D, Rogers JF, Bateman JF, Cole WG.
    J Rheumatol Suppl; 1995 Feb; 43():37-8. PubMed ID: 7752132
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  • 8. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.
    Ala-Kokko L, Baldwin CT, Moskowitz RW, Prockop DJ.
    Proc Natl Acad Sci U S A; 1990 Sep; 87(17):6565-8. PubMed ID: 1975693
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  • 13. The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
    Winterpacht A, Superti-Furga A, Schwarze U, Stöss H, Steinmann B, Spranger J, Zabel B.
    J Med Genet; 1996 Aug; 33(8):649-54. PubMed ID: 8863156
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  • 14. Clinical correlations of osteoarthritis associated with single base mutations in the type II procollagen gene.
    Bleasel JF, Holderbaum D, Haqqi TM, Moskowitz RW.
    J Rheumatol Suppl; 1995 Feb; 43():34-6. PubMed ID: 7752131
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  • 15. Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene.
    Vikkula M, Palotie A, Ritvaniemi P, Ott J, Ala-Kokko L, Sievers U, Aho K, Peltonen L.
    Arthritis Rheum; 1993 Mar; 36(3):401-9. PubMed ID: 8452585
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  • 16. 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 Mar; 1(5):403-16. PubMed ID: 1301950
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  • 17. Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis. German Collaborative Intersex Study Group.
    Hiort O, Wodtke A, Struve D, Zöllner A, Sinnecker GH.
    Hum Mol Genet; 1994 Jul; 3(7):1163-6. PubMed ID: 7981687
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  • 18. Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
    Chan D, Taylor TK, Cole WG.
    J Biol Chem; 1993 Jul 15; 268(20):15238-45. PubMed ID: 8325895
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  • 20. 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 15; 4(2):309-12. PubMed ID: 7757086
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