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Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia

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Published in:British journal of haematology 2013-09, Vol.162 (6), p.851-853
Main Authors: Lorenzo, Felipe R., Yang, Chunzhang, Lanikova, Lucie, Butros, Linda, Zhuang, Zhengping, Prchal, Josef T.
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subjects Adolescent
Biological and medical sciences
Child
Diseases of red blood cells
erythrocytosis
Female
genetics
Hematologic and hematopoietic diseases
Heterozygote
Humans
Male
Medical sciences
molecular haematology
mutations
polycythaemia
Polycythemia - congenital
Polycythemia - genetics
Polycythemias
Tumors
Von Hippel-Lindau Tumor Suppressor Protein - genetics
title Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia
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