A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen
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| Description | article |
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author: Guglielmina Pepe Betti Giusti Luciano Merlini Enrico Bertini |
| Publication date | June 1, 1999 |
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