Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas

Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function

(2012) Chunzhang Yang et al.   FASEB JOURNAL

An Update on the Genetics of Paraganglioma, Pheochromocytoma, and Associated Hereditary Syndromes

(2012) A.-P. Gimenez-Roqueplo et al.   HORMONE AND METABOLIC RESEARCH

SomaticHIF2AGain-of-Function Mutations in Paraganglioma with Polycythemia

(2012) Zhengping Zhuang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

(2008) M. J. Percy et al.   BLOOD

PHD2Mutation and Congenital Erythrocytosis with Paraganglioma

(2008) Charline Ladroue et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Gain-of-Function Mutation in theHIF2AGene in Familial Erythrocytosis

(2008) Melanie J. Percy et al.   NEW ENGLAND JOURNAL OF MEDICINE