COL6A3 Protein Deficiency in Mice Leads to Muscle and Tendon Defects Similar to Human Collagen VI Congenital Muscular Dystrophy

Collagen VI is a ubiquitously expressed extracellular microfibrillar protein. Its most common molecular form is composed of the α1(VI), α2(VI), and α3(VI) collagen α chains encoded by the COL6A1, COL6A2, and COL6A3 genes, respectively. Mutations in any of the three collagen VI genes cause congenital...

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Bibliografiska uppgifter
Huvudupphovsmän: Pan, Te-Cheng, Zhang, Rui-Zhu, Markova, Dessislava, Arita, Machiko, Zhang, Yejia, Bogdanovich, Sasha, Khurana, Tejvir S., Bönnemann, Carsten G., Birk, David E., Chu, Mon-Li
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Biochemistry and Molecular Biology 2013
Ämnen:
Glycobiology and Extracellular Matrices
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3656288/
https://ncbi.nlm.nih.gov/pubmed/23564457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.433078
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