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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

✍ Scribed by Guglielmina Pepe; Betti Giusti; Enrico Bertini; Tamara Brunelli; Biagio Saitta; Paolo Comeglio; Angela Bolognese; Luciano Merlini; Giorgio Federici; Rosanna Abbate; Mon-Li Chu

Book ID: 115583787
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 190 KB
Volume: 258
Category: Article
ISSN: 0006-291X
DOI: 10.1006/bbrc.1999.0680

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