Journal article
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
SR Lamande, JF Bateman, W Hutchison, RJM Gardner, SP Bower, E Byrne, HHM Dahl
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 1998
DOI: 10.1093/hmg/7.6.981