Sökning: "MBNL1"
Hittade 1 avhandling innehållade ordet MBNL1.
1. The regulation of incorrect splicing of ISCU in hereditary myopathy with lactic acidosis
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
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