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Autosomal dominantspondylarthrophthy due to a type nprocollagen gene (Col2A I ) pointmutation. Wint6rpacht A,Hilbert M,SchwarzeU,et al. Human Mutation . 1994
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Mutation analysis of coding seQuences for type I procollagen inindividugls with low bone density. Spotila LD,Colics A,Sereda L,. etal. Journal of Bone and Mineral Research . 1994
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Abnormal craniofacialgfOWth and early mandibular ostoparthritis in mice harbouring a mutanttyre II collagrn transgrne. Rintala M,Metsaranta M,SaamanenAM,et al. Journal of Anatomy . 1997
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collag6n n containing aCys substitution for Aug- a 1-519. Fertala A,Aha--Kokko L,WiaderkiewiczR,et al. Journal of Biological Chemistry . 1997
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Abonce of the a l(IX) chain leadsto a functional knock--out of the entire collag6n iX protein in mice. Hagg R,Hedbom E,Mollers U,etal. Journal of Biological Chemistry . 1997