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Atypical haematological presentation in a case of polycythaemia vera with a new variant mutation detected in exon 12: c.1605G>T (p.Met535Ile).
Pita, Amélia Soraia Andrade; Azevedo, Ana Paula da Silva; Reichert, Alice; Silva, Cândido José Pimenta da; Henriques, Vanessa; Mendes, Diana Sousa; Reis, Ana Maria Batalha; Cerqueira, Rita; Torres, Fátima; Viana, João Faro.
Afiliación
  • Pita ASA; Department of Transfusional Medicine, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.
  • Azevedo APDS; Department of Clinical Pathology, Centro Hospitalar de Lisboa Ocidental, Lisboa, Lisboa, Portugal.
  • Reichert A; Centre for Toxicogenomics and Human Health Genetics, Oncology and Human Toxicology, NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisboa, Portugal.
  • Silva CJPD; Instituto Superior de Ciências da Saúde Egas Moniz, Monte de Caparica, Portugal.
  • Henriques V; Department of Haematology, Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal.
  • Mendes DS; Department of Clinical Pathology, Centro Hospitalar de Lisboa Ocidental, Lisboa, Lisboa, Portugal.
  • Reis AMB; Department of Pathology, Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal.
  • Cerqueira R; Department of Transfusional Medicine, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.
  • Torres F; Department of Clinical Pathology, Centro Hospitalar de Lisboa Ocidental, Lisboa, Lisboa, Portugal.
  • Viana JF; CGC Genetics, Porto, Portugal.
J Clin Pathol ; 71(2): 180-184, 2018 Feb.
Article en En | MEDLINE | ID: mdl-29021147

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Policitemia Vera / Mutación Puntual / Janus Quinasa 2 Tipo de estudio: Prognostic_studies Límite: Female / Humans / Middle aged Idioma: En Revista: J Clin Pathol Año: 2018 Tipo del documento: Article País de afiliación: Portugal

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Policitemia Vera / Mutación Puntual / Janus Quinasa 2 Tipo de estudio: Prognostic_studies Límite: Female / Humans / Middle aged Idioma: En Revista: J Clin Pathol Año: 2018 Tipo del documento: Article País de afiliación: Portugal