A Mouse Model for Dominant Collagen VI Disorders: HETEROZYGOUS DELETION OF Col6a3 EXON 16

Dominant and recessive mutations in collagen VI genes, COL6A1, COL6A2, and COL6A3, cause a continuous spectrum of disorders characterized by muscle weakness and connective tissue abnormalities ranging from the severe Ullrich congenital muscular dystrophy to the mild Bethlem myopathy. Herein, we repo...

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Detalles Bibliográficos
Autores principales: Pan, Te-Cheng, Zhang, Rui-Zhu, Arita, Machiko, Bogdanovich, Sasha, Adams, Sheila M., Gara, Sudheer Kumar, Wagener, Raimund, Khurana, Tejvior S., Birk, David E., Chu, Mon-Li
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Biochemistry and Molecular Biology 2014
Materias:
Glycobiology and Extracellular Matrices
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4036154/
https://ncbi.nlm.nih.gov/pubmed/24563484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M114.549311
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