Associated Papers
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Baker NL et al.
Human Molecular Genetics, 2005
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
Pan TC et al.
American Journal of Human Genetics, 2003
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