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Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel ß-globin mutation.
Maciak, Karolina; Adamowicz-Salach, Anna; Siwicka, Alicja; Poznanski, Jaroslaw; Urasinski, Tomasz; Plochocka, Danuta; Gora, Monika; Burzynska, Beata.
Affiliation
  • Maciak K; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Poland.
  • Adamowicz-Salach A; Department of Pediatrics, Hematology and Oncology, Medical University of Warsaw, Poland.
  • Siwicka A; Department of Pediatrics, Hematology and Oncology, Medical University of Warsaw, Poland.
  • Poznanski J; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Poland.
  • Urasinski T; Department of Pediatrics, Hemato-Oncology and Gastroenterology, Pomeranian Medical University in Szczecin, Poland.
  • Plochocka D; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Poland.
  • Gora M; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Poland.
  • Burzynska B; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Poland. Electronic address: atka@ibb.waw.pl.
Blood Cells Mol Dis ; 80: 102378, 2020 02.
Article in En | MEDLINE | ID: mdl-31670187

Full text: 1 Database: MEDLINE Main subject: Phenotype / Hydrops Fetalis / Beta-Globins / Genetic Association Studies / Anemia, Hemolytic, Congenital / Ion Channels / Mutation Type of study: Prognostic_studies Limits: Adolescent / Child, preschool / Female / Humans / Male / Middle aged Language: En Year: 2020 Type: Article

Full text: 1 Database: MEDLINE Main subject: Phenotype / Hydrops Fetalis / Beta-Globins / Genetic Association Studies / Anemia, Hemolytic, Congenital / Ion Channels / Mutation Type of study: Prognostic_studies Limits: Adolescent / Child, preschool / Female / Humans / Male / Middle aged Language: En Year: 2020 Type: Article