Joseph A Moore Maimon E Hubbi Chenliang Wang Yingfei Wang Weibo Luo Sandra Hofmann Siayareh Rambally
10.1177/2324709620947256
J Investig Med High Impact Case Rep
2020 Jan-Dec;8:2324709620947256.
egln1 hif-1 phd2 erythrocytosis polycythemia
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/32755251/
Hypoxia-Inducible Factor-Proline Dioxygenases / genetics Polycythemia / genetics
Hypoxia-Inducible Factor-Proline Dioxygenases / genetics Polycythemia / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Female Humans Male Middle Aged Mutation, Missense Procollagen-Proline Dioxygenase / genetics EGLN1 protein, human Procollagen-Proline Dioxygenase Hypoxia-Inducible Factor-Proline Dioxygenases
PMC7543148
32755251
Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the EGLN1 Gene
2020