Add to ORKGIn one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg). The man's unaffected mother and sister carry the same mutation. No other VHL genomic or expression alterations were found. In one other patient different genetic conditions were found
The Chuvash form of polycythemia is an autosomal recessive disorder common to a large number of fami...
Von Hippel-Lindau disease (VHL) type 2A is a rare inherited tumor predisposition syndrome, which is ...
Background: Patients with familial erythrocytosis type 2 have no increased risk of von Hippel-Lindau...
Mutations of VHL (a negative regulator of hypoxia-inducible factors) have position-dependent distinc...
The von Hippel-Lindau (pVHL) protein plays an important role in hypoxia sensing. It binds to the hyd...
The increased transcription of HIF target genes plays a key role in the promotion of the angiogenic ...
Congenital secondary erythrocytosis is a rare disorder characterized by increased red blood cell pro...
Chuvash polycythemia (CP) is an autosomal recessive condition that is endemic in the Russian mid-Vol...
Mutations in the von Hippel-Lindau (VHL) gene are responsible for VHL disease, congenital polycythem...
Context Germline mutations in four genes (RET, VHL, SDHB and SDHD) are detected in about 17% of pati...
The von Hippel-Lindau (pVHL) protein plays an important role in hypoxia sensing. It binds to the hyd...
von Hippel-Lindau (VHL) protein is the principal negative regulator of hypoxia sensing mediated by t...
A young man with polycythemia, reduced growth rate, persistent hypoglycemia, and mitochondrial defec...
Mutations in VHL, which encodes von Hippel–Lindau tumor suppressor (VHL), are associated with diverg...
Mutations in VHL, which encodes von Hippel-Lindau tumor suppressor (VHL), are associated with diverg...
The Chuvash form of polycythemia is an autosomal recessive disorder common to a large number of fami...
Von Hippel-Lindau disease (VHL) type 2A is a rare inherited tumor predisposition syndrome, which is ...
Background: Patients with familial erythrocytosis type 2 have no increased risk of von Hippel-Lindau...
Mutations of VHL (a negative regulator of hypoxia-inducible factors) have position-dependent distinc...
The von Hippel-Lindau (pVHL) protein plays an important role in hypoxia sensing. It binds to the hyd...
The increased transcription of HIF target genes plays a key role in the promotion of the angiogenic ...
Congenital secondary erythrocytosis is a rare disorder characterized by increased red blood cell pro...
Chuvash polycythemia (CP) is an autosomal recessive condition that is endemic in the Russian mid-Vol...
Mutations in the von Hippel-Lindau (VHL) gene are responsible for VHL disease, congenital polycythem...
Context Germline mutations in four genes (RET, VHL, SDHB and SDHD) are detected in about 17% of pati...
The von Hippel-Lindau (pVHL) protein plays an important role in hypoxia sensing. It binds to the hyd...
von Hippel-Lindau (VHL) protein is the principal negative regulator of hypoxia sensing mediated by t...
A young man with polycythemia, reduced growth rate, persistent hypoglycemia, and mitochondrial defec...
Mutations in VHL, which encodes von Hippel–Lindau tumor suppressor (VHL), are associated with diverg...
Mutations in VHL, which encodes von Hippel-Lindau tumor suppressor (VHL), are associated with diverg...
The Chuvash form of polycythemia is an autosomal recessive disorder common to a large number of fami...
Von Hippel-Lindau disease (VHL) type 2A is a rare inherited tumor predisposition syndrome, which is ...
Background: Patients with familial erythrocytosis type 2 have no increased risk of von Hippel-Lindau...