The High Level of Aberrant Splicing of ISCU in Slow-Twitch Muscle May Involve the Splicing Factor SRSF3

por Rawcliffe, Denise F. R., Österman, Lennart, Lindsten, Hans, Holmberg, Monica
Publicado 2016

PTBP1 acts as a dominant repressor of the aberrant tissue‐specific splicing of ISCU in hereditary myopathy with lactic acidosis

por Rawcliffe, Denise F. R., Österman, Lennart, Nordin, Angelica, Holmberg, Monica
Publicado 2018

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden

por Westin, Ida Maria, Jonsson, Frida, Österman, Lennart, Holmberg, Monica, Burstedt, Marie, Golovleva, Irina
Publicado 2021