Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype

August 6, 2024

Tiffin HR, Jenkins ZA, Gray MJ, Cameron-Christie SR, Eaton J, Aftimos S, Markie D, and Robertson S. (2013) Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype. Neurogenetics 14(2), 113-121.