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Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy

OBJECTIVES: The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular dystrophies and are characterized by distal joint laxity and a combination of distal and proximal joint contracture...

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Detalles Bibliográficos
Autores principales: Butterfield, Russell J., Dunn, Diane M., Hu, Ying, Johnson, Kory, Bönnemann, Carsten G., Weiss, Robert B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5731705/
https://www.ncbi.nlm.nih.gov/pubmed/29244830
http://dx.doi.org/10.1371/journal.pone.0189664