Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD

Author:

Aguti Sara,Bolduc Véronique,Ala Pierpaolo,Turmaine Mark,Bönnemann Carsten G.,Muntoni Francesco,Zhou Haiyan

Funder

Muscular Dystrophy UK

Wellcome Trust

National Institutes of Health

Intramural Research Program

NIH

NINDS

Publisher

Elsevier BV

Subject

Drug Discovery,Molecular Medicine

Reference43 articles.

1. A Case of Congenital Defect of the Muscular System (Dystrophia muscularis congenita) and its Association with Congenital Talipes equino-varus;Howard;Proc. R. Soc. Med.,1908

2. Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37;Speer;Hum. Mol. Genet.,1996

3. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI;Camacho Vanegas;Proc. Natl. Acad. Sci. USA,2001

4. Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008;Clement;Neuromuscul. Disord.,2012

5. Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen;Weil;Am. J. Hum. Genet.,1988

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