Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

By Lamandé S.R.  

Human Molecular Genetics, Vol. 7, Iss. 6, 1998-06 ,pp. : 981-989

Oxford University Press

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Missense mutations in COL8A2 , the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

By Kielty C.  

Human Molecular Genetics, Vol. 10, Iss. 21, 2001-10 ,pp. : 2415-2423

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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A Family with Stickler Syndrome Type 2 Has a Mutation in the COL11A1 Gene Resulting in the Substitution of Glycine 97 by Valine in a1(XI) Collagen

By Richards Allan J.   Yates John R. W.   Williams Rebecca   Payne Stewart J.   Michael Pope F.   Scott John D.   Snead Martin P.  

Human Molecular Genetics, Vol. 5, Iss. 9, 1996-01 ,pp. : 1339-1343

Oxford University Press

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Missense Mutation in the Ligand-Binding Domain of the Horse Androgen Receptor Gene in a Thoroughbred Family with Inherited 64,XY (SRY+) Disorder of Sex Development

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Sexual Development, Vol. 10, Iss. 1, 2016-04 ,pp. : 37-44

Karger

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