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Journal Abstract Search

210 related items for PubMed ID: 7738948

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  • 2. Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1?
    Bleasel JF, Holderbaum D, Mallock V, Haqqi TM, Williams HJ, Moskowitz RW.
    J Rheumatol; 1996 Sep; 23(9):1594-8. PubMed ID: 8877930
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  • 4. 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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  • 5. Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation.
    Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel B.
    Hum Mutat; 1994 Feb; 4(4):257-62. PubMed ID: 7866404
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  • 6. A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.
    Ritvaniemi P, Sokolov BP, Williams CJ, Considine E, Yurgenev L, Meerson EM, Ala-Kokko L, Prockop DJ.
    Hum Mutat; 1994 Feb; 3(3):261-7. PubMed ID: 8019561
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  • 11. Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).
    Löppönen T, Körkkö J, Lundan T, Seppänen U, Ignatius J, Kääriäinen H.
    Arthritis Rheum; 2004 Dec 15; 51(6):925-32. PubMed ID: 15593085
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  • 12. 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 15; 43():37-8. PubMed ID: 7752132
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  • 17. Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis.
    Ritvaniemi P, Körkkö J, Bonaventure J, Vikkula M, Hyland J, Paassilta P, Kaitila I, Kääriäinen H, Sokolov BP, Hakala M.
    Arthritis Rheum; 1995 Jul 15; 38(7):999-1004. PubMed ID: 7612049
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