Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene.

  title={Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene.},
  author={Murat O. Arcasoy and Barbara A. Degar and Kevin W. Harris and Bernard G. Forget},
  volume={89 12},
Familial erythrocytosis (familial polycythemia) inherited as an autosomal dominant trait has recently been reported to be associated with mutations in the gene encoding the erythropoietin receptor (EpoR) in a small number of families. We studied a new kindred with dominantly inherited familial erythrocytosis associated with heterozygosity for a deletion of seven nucleotides between positions 5985 and 5991 in exon 8 of the EpoR gene, resulting in an EpoR peptide that is truncated by 59 amino… CONTINUE READING
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