A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome
在一例非典型巴特综合征病例中发现TAZ(G4.5)基因的新型外显子剪接突变
期刊:JIMD Reports
影响因子:1.8
doi:10.1007/8904_2013_228
Fan, Yuxin; Steller, Jon; Gonzalez, Iris L; Kulik, Wim; Fox, Michelle; Chang, Richard; Westerfield, Brandy A; Batra, Anjan S; Wang, Raymond Yu Jeang; Gallant, Natalie M; Pena, Liana S; Wang, Hu; Huang, Taosheng; Bhuta, Sunita; Penny, Daniel J; McCabe, Edward R; Kimonis, Virginia E