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Journal Abstract Search

165 related items for PubMed ID: 2808425

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  • 3. A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.
    Tromp G, Kuivaniemi H, Shikata H, Prockop DJ.
    J Biol Chem; 1989 Jan 25; 264(3):1349-52. PubMed ID: 2492273
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  • 7. Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.
    Vissing H, D'Alessio M, Lee B, Ramirez F, Byers PH, Steinmann B, Superti-Furga A.
    J Biol Chem; 1991 Mar 15; 266(8):5244-8. PubMed ID: 2002056
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  • 11. Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific.
    Pack M, Constantinou CD, Kalia K, Nielsen KB, Prockop DJ.
    J Biol Chem; 1989 Nov 25; 264(33):19694-9. PubMed ID: 2511192
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  • 13. Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).
    Constantinou CD, Pack M, Young SB, Prockop DJ.
    Am J Hum Genet; 1990 Oct 25; 47(4):670-9. PubMed ID: 2220807
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  • 18. Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
    Tromp G, De Paepe A, Nuytinck L, Madhatheri S, Kuivaniemi H.
    Hum Mutat; 1995 Oct 25; 5(2):179-81. PubMed ID: 7749417
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