The UCMD-Causing COL6A1 (c.930 + 189C > T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains
导致 UCMD 的 COL6A1 (c.930 + 189C > T) 内含子突变导致单个突变的 VI 型胶原蛋白 α1 链的分泌和聚集
期刊:Human Mutation
影响因子:3.7
doi:10.1155/2023/6892763
Freiburg, Carolin D; Solomon-Degefa, Herimela; Freiburg, Patrick; Mörgelin, Matthias; Bolduc, Véronique; Schmitz, Sebastian; Ala, Pierpaolo; Muntoni, Francesco; Behrmann, Elmar; Bönnemann, Carsten G; Schiavinato, Alvise; Paulsson, Mats; Wagener, Raimund
