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Article

Familial polycythemia due to truncations of the erythropoietin receptor.

Transactions of the American Clinical and Climatological Association - 1 Jan 2000

Forget B G, Degan B A, Arcasoy M O

Abstract excerpt

We studied a kindred with dominantly inherited familial erythrocytosis associated with heterozygosity for a deletion of seven nucleotides in exon 8 of the EpoR gene resulting in an EpoR peptide that is truncated by 59 amino acids in its C-terminal intracytoplasmic signal transduction domain. A seven basepair direct repeat sequence is present in the normal EpoR gene at the site of this mutation, consistent with...

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Identifiers

PMID: 10881330
PMCID: PMC2194364

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