Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice
COL12A1 的隐性和显性突变导致人类和小鼠出现新的 EDS/肌病重叠综合征
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddt627
Yaqun Zou, Daniela Zwolanek, Yayoi Izu, Shreya Gandhy, Gudrun Schreiber, Knut Brockmann, Marcella Devoto, Zuozhen Tian, Ying Hu, Guido Veit, Markus Meier, Jörg Stetefeld, Debbie Hicks, Volker Straub, Nicol C Voermans, David E Birk, Elisabeth R Barton, Manuel Koch, Carsten G Bönnemann