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-Reference-Cited by-同舟云学术

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

Published:1999-05 Issue:3 Volume:258 Page:802-807
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

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

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference20 articles.

1. Cytokine Gene Expression in Human LPS- and IFNγ-stimulated Mononuclear Cells Is Inhibited by Heparin

2. BENIGN MYOPATHY, WITH AUTOSOMAL DOMINANT INHERITANCE

3. Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy

4. Amino acid sequence of the triple-helical domain of human collagen type VI.

5. 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.

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