A Homozygous COL6A2 Intron Mutation Causes In-Frame Triple-Helical Deletion and Nonsense-Mediated mRNA Decay in a Patient With Ullrich Congenital Muscular Dystrophy
Human Genetics - Germany
doi 10.1007/s00439-005-1318-8
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June 17, 2005
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Springer Science and Business Media LLC