title: Analysis of the oxygen sensing pathway genes in familial chronic myeloproliferative neoplasms and identification of a novel EGLN1 germ-line mutation.
authors.forename: Elena
authors.initials: E
authors.lastname: Albiero
authors.forename: Marco
authors.initials: M
authors.lastname: Ruggeri
authors.forename: Stefania
authors.initials: S
authors.lastname: Fortuna
authors.forename: Martina
authors.initials: M
authors.lastname: Bernardi
authors.forename: Silvia
authors.initials: S
authors.lastname: Finotto
authors.forename: Domenico
authors.initials: D
authors.lastname: Madeo
authors.forename: Francesco
authors.initials: F
authors.lastname: Rodeghiero
mesh_terms: D000328:Adult; D000368:Aged; D002908:Chronic Disease; D018095:Germ-Line Mutation; D006801:Humans; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases; D008297:Male; D009196:Myeloproliferative Disorders / Q000235:genetics*; D010100:Oxygen / Q000378:metabolism*; D011087:Polycythemia Vera / Q000235:genetics; D011393:Procollagen-Proline Dioxygenase / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics
chemical_list: C490190:EGLN1 protein, human; D011393:Procollagen-Proline Dioxygenase; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases; D010100:Oxygen