Molecular consequences of dominant Bethlem myopathy collagen VI mutations-Reference-Cited by-同舟云学术

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

Published:2007-09-20 Issue:4 Volume:62 Page:390-405
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Baker Naomi L.,Mörgelin Matthias,Pace Rishika A.,Peat Rachel A.,Adams Naomi E.,Gardner R. J. McKinlay,Rowland Lewis P.,Miller Geoffrey,De Jonghe Peter,Ceulemans Berten,Hannibal Mark C.,Edwards Matthew,Thompson Elizabeth M.,Jacobson Richard,Quinlivan Ros C. M.,Aftimos Salim,Kornberg Andrew J.,North Kathryn N.,Bateman John F.,Lamandé Shireen R.

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference39 articles.

1. Collagen VI related muscle disorders;Lampe;J Med Genet,2005

2. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI;Vanegas;Proc Natl Acad Sci U S A,2001

3. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype;Pan;Am J Hum Genet,2003

4. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy;Baker;Hum Mol Genet,2005

5. The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells;Lamande;J Biol Chem,2006

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