Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies
TPM2 和 TPM3 中导致先天性肌病的新型和先前已描述的突变的突变更新及基因型-表型相关性
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.22554
Marttila, Minttu; Lehtokari, Vilma-Lotta; Marston, Steven; Nyman, Tuula A; Barnerias, Christine; Beggs, Alan H; Bertini, Enrico; Ceyhan-Birsoy, Ozge; Cintas, Pascal; Gerard, Marion; Gilbert-Dussardier, Brigitte; Hogue, Jacob S; Longman, Cheryl; Eymard, Bruno; Frydman, Moshe; Kang, Peter B; Klinge, Lars; Kolski, Hanna; Lochmüller, Hans; Magy, Laurent; Manel, Véronique; Mayer, Michèle; Mercuri, Eugenio; North, Kathryn N; Peudenier-Robert, Sylviane; Pihko, Helena; Probst, Frank J; Reisin, Ricardo; Stewart, Willie; Taratuto, Ana Lia; de Visser, Marianne; Wilichowski, Ekkehard; Winer, John; Nowak, Kristen; Laing, Nigel G; Winder, Tom L; Monnier, Nicole; Clarke, Nigel F; Pelin, Katarina; Grönholm, Mikaela; Wallgren-Pettersson, Carina