2002
Mutations in the VHL gene in sporadic apparently congenital polycythemia
Pastore Y, Jelinek J, Ang S, Guan Y, Liu E, Jedlickova K, Krishnamurti L, Prchal J. Mutations in the VHL gene in sporadic apparently congenital polycythemia. Blood 2002, 101: 1591-1595. PMID: 12393546, DOI: 10.1182/blood-2002-06-1843.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultArginineAspartic AcidBase SequenceChildChild, PreschoolDNA Mutational AnalysisErythroid Precursor CellsErythropoietinFemaleHeterozygoteHomozygoteHumansLeucineLigasesMaleMutationPedigreePolycythemiaSequence Analysis, DNATryptophanTumor Suppressor ProteinsTyrosineUbiquitin-Protein LigasesValineVon Hippel-Lindau Tumor Suppressor ProteinConceptsVon Hippel-LindauVHL geneTumor suppressor von Hippel-LindauPolycythemic disordersDownstream target genesVHL mutationsHypoxia-sensing pathwayVHL functionHypoxia-inducible factor-1alphaProteosomal degradationTarget genesErythroid cellsGermline VHL mutationsCongenital polycythemiaChuvash polycythemiaVHL syndromeGenesHIF-1alphaDevelopment of tumorsFactor-1alphaElevated serum Epo levelsMutationsEPO productionAutosomal dominant disorderPathway
1998
Coinheritance of α-thalassemia-1 and hemoglobin E/β0-thalassemia: Practical implications for neonatal screening and genetic counseling
Krishnamurti L, Chui D, Dallaire M, LeRoy B, Waye J, Perentesis J. Coinheritance of α-thalassemia-1 and hemoglobin E/β0-thalassemia: Practical implications for neonatal screening and genetic counseling. The Journal Of Pediatrics 1998, 132: 863-865. PMID: 9602201, DOI: 10.1016/s0022-3476(98)70319-1.Peer-Reviewed Original Research