Sökning: "MBNL1"

Hittade 1 avhandling innehållade ordet MBNL1.

  1. 1. The regulation of incorrect splicing of ISCU in hereditary myopathy with lactic acidosis

    Författare :Denise F. R. Rawcliffe; Monica Holmberg; Helena Edlund; Diana Baralle; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; HML; ISCU; Splicing; SRSF3; PTBP1; RBM39; MBNL1; medicinsk genetik; Medical Genetics;

    Sammanfattning : Patients suffering from hereditary myopathy with lactic acidosis (HML) can be found in the northern Swedish counties of Ångermanland and Västerbotten. HML is a rare autosomal recessive disease where patients display a low tolerance to exercise at an early age. LÄS MER