Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

  title={Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.},
  author={Melanie Joan Percy and Philip A. Beer and Gavin Campbell and Ad W Dekker and Anthony R Green and David Oscier and Melinda Rainey and Richard van Wijk and Marion Wood and Terence R. J. Lappin and Mary Frances McMullin and Frank C. Lee},
  volume={111 11},
Erythrocytosis can arise from deregulation of the erythropoietin (Epo) axis resulting from defects in the oxygen-sensing pathway. Epo synthesis is controlled by the hypoxia inducible factor (HIF) complex, composed of an alpha and a beta subunit. There are 2 main alpha subunits, HIF-1 alpha and HIF-2 alpha. Recently, a HIF-2 alpha Gly537Trp mutation was identified in a family with erythrocytosis. This raises the possibility of HIF2A mutations being associated with other cases of erythrocytosis… CONTINUE READING

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Disturbance in the HIF - 1 alpha pathway associated with erythrocytosis : further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 ( PHD 2 )

MJ Percy, PW Furlow, GS Lucas
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