Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum-Reference-Cited by-同舟云学术

Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum

Published:2018-09 Issue: Volume:672 Page:165-171
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Marakhonov Andrey V.,Tabakov Vyacheslav Yu.,Zernov Nikolay V.,Dadali Elena L.,Sharkova Inna V.,Skoblov Mikhail Yu.

Funder

RFBR

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference22 articles.

1. The galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2016 update;Afgan;Nucleic Acids Res.,2016

2. ColVI myopathies: where do we stand, where do we go?;Allamand;Skelet. Muscle,2011

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

4. Molecular consequences of dominant Bethlem myopathy collagen VI mutations;Baker;Ann. Neurol.,2007

5. Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees;Bethlem;Brain,1976

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