... mutations within the TPI1 gene result in the rare enzymopathy, TPI deficiency, which presents clinically with chronic haemolytic anaemia, cardiomyopathy, increased susceptibility to infections, neurodegeneration and death in early childhood ( Sarper et al., 2013 ; Rosa et al., 1985 ; Fermo et al., 2010...

... and biochemical parallels to hereditary coproporphyria. Using ENU mutagenesis to identify novel genes regulating erythropoiesis, we identified a mouse line (RBC16) with a microcytic anaemia ( Table 1 ). Fifty per cent of progeny born from the founder mouse mated with a wild-type mouse displayed a reduced mean...