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Identification of a Novel Mutation of ß-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing.
Boguslawska, Dzamila M; Skulski, Michal; Machnicka, Beata; Potoczek, Stanislaw; Kraszewski, Sebastian; Kuliczkowski, Kazimierz; Sikorski, Aleksander F.
Affiliation
  • Boguslawska DM; Department of Biotechnology, Institute of Biological Sciences, University of Zielona Góra, Prof. Szafrana St. 1, 65-516 Zielona Góra, Poland.
  • Skulski M; Department of Cytobiochemistry, Faculty of Biotechnology, University of Wroclaw, ul. Fryderyka Joliot-Curie 14a, 50-383 Wroclaw, Poland.
  • Machnicka B; Department of Biotechnology, Institute of Biological Sciences, University of Zielona Góra, Prof. Szafrana St. 1, 65-516 Zielona Góra, Poland.
  • Potoczek S; Department and Clinic of Haematology, Blood Neoplasms, and Bone Marrow Transplantation, Wroclaw Medical University, Wybrzeze L. Pasteura 4, 50-367 Wroclaw, Poland.
  • Kraszewski S; Department of Biomedical Engineering, Wroclaw University of Science and Technology, Plac Grunwaldzki 13 (D-1), 50-377 Wroclaw, Poland.
  • Kuliczkowski K; Silesian Park of Medical Technology Kardio-Med Silesia, ul. M. Curie-Sklodowskiej 10c, 41-800 Zabrze, Poland.
  • Sikorski AF; Research and Development Centre, Regional Specialist Hospital, Kamienskiego 73a, 51-154 Wroclaw, Poland.
Int J Mol Sci ; 22(20)2021 Oct 12.
Article in En | MEDLINE | ID: mdl-34681667
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spherocytosis, Hereditary / Spectrin Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Middle aged Language: En Journal: Int J Mol Sci Year: 2021 Type: Article Affiliation country: Poland
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spherocytosis, Hereditary / Spectrin Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Middle aged Language: En Journal: Int J Mol Sci Year: 2021 Type: Article Affiliation country: Poland