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Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.
Repczynska, Anna; Julga, Katarzyna; Skalska-Sadowska, Jolanta; Kacprzak, Magdalena M; Bartoszewska-Kubiak, Alicja; Lazarczyk, Ewelina; Loska, Damian; Drozniewska, Malgorzata; Czerska, Kamila; Wachowiak, Jacek; Haus, Olga.
Affiliation
  • Repczynska A; Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Torun, Poland. annasz@cm.umk.pl.
  • Julga K; Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Torun, Poland.
  • Skalska-Sadowska J; Department of Pediatric Oncology, Hematology and Transplantology, University of Medical Sciences, Poznan, Poland.
  • Kacprzak MM; Medgen SA, Warsaw, Poland.
  • Bartoszewska-Kubiak A; Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Torun, Poland.
  • Lazarczyk E; Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Torun, Poland.
  • Loska D; Medgen SA, Warsaw, Poland.
  • Drozniewska M; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Czerska K; Medgen SA, Warsaw, Poland.
  • Wachowiak J; Department of Pediatric Oncology, Hematology and Transplantology, University of Medical Sciences, Poznan, Poland.
  • Haus O; Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Torun, Poland.
Orphanet J Rare Dis ; 17(1): 282, 2022 07 19.
Article in En | MEDLINE | ID: mdl-35854323
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fanconi Anemia Complementation Group A Protein / Fanconi Anemia Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Humans Country/Region as subject: Europa Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2022 Document type: Article Affiliation country: Poland Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fanconi Anemia Complementation Group A Protein / Fanconi Anemia Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Humans Country/Region as subject: Europa Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2022 Document type: Article Affiliation country: Poland Country of publication: United kingdom