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Familial polycythemia due to truncations of the erythropoietin receptor.
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...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Clinical and Climatological Association
2000
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2194364/ https://ncbi.nlm.nih.gov/pubmed/10881330 |
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