Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy: ROLE OF THE C2a SPLICE VARIANT

Ullrich congenital muscular dystrophy (UCMD) is a disabling and life-threatening disorder resulting from either recessive or dominant mutations in genes encoding collagen VI. Although the majority of the recessive UCMD cases have frameshift or nonsense mutations in COL6A1, COL6A2, or COL6A3, recessi...

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Detalles Bibliográficos
Autores principales: Zhang, Rui-Zhu, Zou, Yaqun, Pan, Te-Cheng, Markova, Dessislava, Fertala, Andrzej, Hu, Ying, Squarzoni, Stefano, Reed, Umbertina Conti, Marie, Suely K. N., Bönnemann, Carsten G., Chu, Mon-Li
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Biochemistry and Molecular Biology 2010
Materias:
Glycobiology and Extracellular Matrices
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2843164/
https://ncbi.nlm.nih.gov/pubmed/20106987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.093666
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