Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype
Titel:
Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype
Auteur:
Meyer, Alayne P. Yousfi, Sana Nicolau, Stefan Rashnonejad, Afrooz Zhu, Jingting Sahenk, Zarife Frair, Emma Lin, Hui Ramadesikan, Swetha Koboldt, Daniel Flanigan, Kevin M.