title: Granulocyte whole exome sequencing and endothelial JAK2V617F in patients with JAK2V617F positive Budd-Chiari Syndrome without myeloproliferative neoplasm.
authors.affiliation: Haematology Oncology, Hospital Israelita Albert Einstein, Sao Paulo, Brazil.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Helman
authors.affiliation: Imunologia pela Universidade de São Paulo, Sao Paulo, Brazil.
authors.forename: Welbert de O
authors.initials: WO
authors.lastname: Pereira
authors.affiliation: Biotecnologia pela Universidade de São Paulo, Sao Paulo, Brazil.
authors.forename: Luciana C
authors.initials: LC
authors.lastname: Marti
authors.affiliation: Molecular Diagnostics, Hospital Israelita Albert Einstein, Sao Paulo, Brazil.
authors.forename: Paulo V
authors.initials: PV
authors.lastname: Campregher
authors.affiliation: Mestrado em Ciências Biológicas (Genética) pela Universidade de São Paulo, Sao Paulo, Brazil.
authors.forename: Renato Davi
authors.initials: RD
authors.lastname: Puga
authors.affiliation: Haematology, Hospital Israelita Albert Einstein, Sao Paulo, Brazil.
authors.forename: Nelson
authors.initials: N
authors.lastname: Hamerschlak
authors.affiliation: Haemaotology Oncology, Faculdade de Ciências Médicas da Santa Casa de São Paulo, Sao Paulo, Brazil.
authors.forename: Carlos S
authors.initials: CS
authors.lastname: Chiattone
authors.affiliation: Haematology and Bone Marrow Transplantation unit, Hospital Israelita Albert Einstein, Sao Paulo, Brazil.
authors.forename: Fabio Pires de S
authors.initials: FPS
authors.lastname: Santos
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D006502:Budd-Chiari Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D042783:Endothelial Cells / Q000378:metabolism*; D005787:Gene Frequency; D005838:Genotype; D006098:Granulocytes / Q000378:metabolism*; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000150:complications / Q000235:genetics; D000073359:Exome Sequencing
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: Budd-Chiari syndrome; JAK2; endothelial cells; myeloproliferative neoplasms