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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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Hlavní autoři: Forget, B. G., Degan, B. A., Arcasoy, M. O.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Clinical and Climatological Association 2000
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2194364/
https://ncbi.nlm.nih.gov/pubmed/10881330
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