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 in Biochemical and Biophysical Research Communications
- Vol. 258 (3), 802-807
- https://doi.org/10.1006/bbrc.1999.0680
Abstract
No abstract availableKeywords
This publication has 13 references indexed in Scilit:
- Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathyHuman Molecular Genetics, 1998
- Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiencyHuman Molecular Genetics, 1998
- Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathyHuman Molecular Genetics, 1998
- Cytokine Gene Expression in Human LPS- and IFNγ-stimulated Mononuclear Cells Is Inhibited by HeparinThrombosis and Haemostasis, 1998
- Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contracturesNature Genetics, 1996
- Head to Tail Organization of the Human COL6A1 and COL6A2 Genes by Fiber-FISHGenomics, 1995
- Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.Proceedings of the National Academy of Sciences, 1993
- A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfectaHuman Mutation, 1993
- Collagens and their Abnormalities in a Wide Spectrum of DiseasesAnnals of Medicine, 1993
- BENIGN MYOPATHY, WITH AUTOSOMAL DOMINANT INHERITANCEBrain, 1976