Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the Gene

• Main Authors: Joseph A. Moore MD (Author), Maimon E. Hubbi MD, PhD (Author), Chenliang Wang PhD (Author), Yingfei Wang PhD (Author), Weibo Luo PhD (Author), Sandra Hofmann MD, PhD (Author), Siayareh Rambally MD (Author)
• Format: Book
• Published: SAGE Publishing, 2020-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Hypoxia-inducible factor-1 (HIF-1) is a key regulator of erythropoiesis. In this article, we report 3 novel mutations, P378S, A385T, and G206C, on the EGLN1 gene encoding the negative HIF-1α regulator prolyl hydroxylase domain-2 (PHD2) in 3 patients with isolated erythrocytosis. These mutations impa...