Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency (Q28270314)
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scientific article
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English | Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency |
scientific article |
Statements
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency (English)
R J McKinlay Gardner
S R Lamandé
W Hutchison
S P Bower
E Byrne
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2 references
2 references