Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.
Lorenzo, Felipe R
Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. [electronic resource] - British journal of haematology Sep 2013 - 851-3 p. digital
Publication Type: Case Reports; Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
1365-2141
10.1111/bjh.12431 doi
Adolescent
Child
Female
Heterozygote
Humans
Male
Polycythemia--congenital
Von Hippel-Lindau Tumor Suppressor Protein--genetics
Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. [electronic resource] - British journal of haematology Sep 2013 - 851-3 p. digital
Publication Type: Case Reports; Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
1365-2141
10.1111/bjh.12431 doi
Adolescent
Child
Female
Heterozygote
Humans
Male
Polycythemia--congenital
Von Hippel-Lindau Tumor Suppressor Protein--genetics