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Two novel C-terminal frameshift mutations in the ß-globin gene lead to rapid mRNA decay.
Rawa, Katarzyna; Szczesny, Roman J; Owczarek, Ewelina P; Adamowicz-Salach, Anna; Klukowska, Anna; Demkow, Urszula; Plochocka, Danuta; Szczesny, Pawel; Gora, Monika; Dziembowski, Andrzej; Burzynska, Beata.
Afiliação
  • Rawa K; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5a, 02-106, Warszawa, Poland.
  • Szczesny RJ; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5a, 02-106, Warszawa, Poland.
  • Owczarek EP; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 02-106, Warsaw, Poland.
  • Adamowicz-Salach A; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5a, 02-106, Warszawa, Poland.
  • Klukowska A; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 02-106, Warsaw, Poland.
  • Demkow U; Department of Paediatrics, Haematology and Oncology, Medical University of Warsaw, 02-091, Warsaw, Poland.
  • Plochocka D; Department of Paediatrics, Haematology and Oncology, Medical University of Warsaw, 02-091, Warsaw, Poland.
  • Szczesny P; Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Medical University of Warsaw, 02-091, Warsaw, Poland.
  • Gora M; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5a, 02-106, Warszawa, Poland.
  • Dziembowski A; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5a, 02-106, Warszawa, Poland.
  • Burzynska B; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5a, 02-106, Warszawa, Poland.
BMC Med Genet ; 18(1): 65, 2017 06 08.
Article em En | MEDLINE | ID: mdl-28595636
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Talassemia beta / Estabilidade de RNA / Globinas beta Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male País como assunto: Europa Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Talassemia beta / Estabilidade de RNA / Globinas beta Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male País como assunto: Europa Idioma: En Ano de publicação: 2017 Tipo de documento: Article