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

Rui-Zhu Zhang Yaqun Zou; Te-Cheng Pan; Dessislava Markova; Andrzej Fertala; Ying Hu; Stefano Squarzoni; Umbertina Conti Reed; Suely K. N Marie; Carsten G Bönnemann; Mon-Li Chu

Journal of Biological Chemistry Baltimore v. 285, n. 13, p. 10005-10015, 2010

Baltimore 2010

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