erythrocytosis—familial—4

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erythrocytosis—familial—42016-12-03T16:04:32+00:00

erythrocytosis—familial—4

HAEMATOLOGY

An autosomal dominant disorder (OMIM:611783) characterised by increased red cell mass, elevated serum haemoglobin and haematocrit, and normal platelet and leukocyte counts.

Molecular pathology Defects of EPAS1, which encodes a transcription factor involved in inducing oxygen-regulated genes, cause erythrocytosis—familial—4.

References http://www.uniprot.org/uniprot/Q99814

http://www.omim.org/entry/611783

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