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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Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: American Society for Biochemistry and Molecular Biology 2010
Teme:
Glycobiology and Extracellular Matrices
Online pristup: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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