A Heterozygous Splice Site Mutation in COL6A1 Leading to an In-Frame Deletion of the α1(VI) Collagen Chain in an Italian Family Affected by Bethlem Myopathy
- 19 May 1999
- journal article
- case report
- Published by Elsevier BV in Biochemical and Biophysical Research Communications
- Vol. 258 (3), 802-807
- https://doi.org/10.1006/bbrc.1999.0680
Abstract
No abstract availableKeywords
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