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

Lamande, SR; Bateman, JF; Hutchison, W; Gardner, RJM; Bower, SP; Byrne, E; Dahl, HHM; (1998) Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. Human Molecular Genetics , 7 (6) 981 - 989.

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Type:Article
Title:Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
Additional information:WoS ID: 000074011200005 JJUN
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Medical Sciences

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