title: Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.
authors.forename: Felipe R
authors.initials: FR
authors.lastname: Lorenzo
authors.forename: Chunzhang
authors.initials: C
authors.lastname: Yang
authors.forename: Lucie
authors.initials: L
authors.lastname: Lanikova
authors.forename: Linda
authors.initials: L
authors.lastname: Butros
authors.forename: Zhengping
authors.initials: Z
authors.lastname: Zhuang
authors.forename: Josef T
authors.initials: JT
authors.lastname: Prchal
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D011086:Polycythemia / Q000151:congenital* / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human
keywords: erythrocytosis; genetics; molecular haematology; mutations; polycythaemia