Erythropoietin Receptor and Familial Erythrocytosis

In contrast to the situation with the G-CSF receptor, heterozygous carboxyl truncations of the human EPOR are associated not with anemia but with polycythemia and are often transmitted in the germline (157,158). A multistep targeted gene modification approach has been used to replicate one mutated HuEPO receptor (C5964 —> G) in a murine model (159). These mice show a haploinsufficiency phenotype with polycythemia. Mice homozygous for this mutation (a situation not observed clinically) develop severe polycythemia, but are viable.

Was this article helpful?

0 0
10 Ways To Fight Off Cancer

10 Ways To Fight Off Cancer

Learning About 10 Ways Fight Off Cancer Can Have Amazing Benefits For Your Life The Best Tips On How To Keep This Killer At Bay Discovering that you or a loved one has cancer can be utterly terrifying. All the same, once you comprehend the causes of cancer and learn how to reverse those causes, you or your loved one may have more than a fighting chance of beating out cancer.

Get My Free Ebook

Post a comment