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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: American Society for Biochemistry and Molecular Biology 2010
विषय:
Glycobiology and Extracellular Matrices
ऑनलाइन पहुंच: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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