Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

By Bateman J.F.  

Human Molecular Genetics, Vol. 12, Iss. 3, 2003-02 ,pp. : 217-225

Oxford University Press

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Missense mutation in a von Willebrand factor type A domain of the α3(VI) collagen gene ( COL6A3 ) in a family with Bethlem myopathy

By Speer M.C.  

Human Molecular Genetics, Vol. 7, Iss. 5, 1998-05 ,pp. : 807-812

Oxford University Press

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Nonsense-mediated mRNA decay in health and disease

By Frischmeyer Pamela A.   Dietz Harry C.  

Human Molecular Genetics, Vol. 8, Iss. 10, 1999-10 ,pp. : 1893-1900

Oxford University Press

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hMRE11 : genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay

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Human Molecular Genetics, Vol. 10, Iss. 11, 2001-05 ,pp. : 1155-1162

Oxford University Press

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Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy

By Bonaldo P.   Braghetta P.   Zanetti M.   Piccolo S.   Volpin D.   Bressan G.M.  

Human Molecular Genetics, Vol. 7, Iss. 13, 1998-12 ,pp. : 2135-2140

Oxford University Press

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