A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.
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| Description | scientific article |
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author: Guglielmina Pepe Betti Giusti Francesco Muntoni Cecilia Jimenez-Mallebrera |
| Publication date | June 17, 2005 |
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