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Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert's syndrome.

Woori JangDong Jun HaChung Hyun NahmJisun ParkSu Jin KimJi Eun LeeYeonsook Moon
Published in: Hematology (Amsterdam, Netherlands) (2024)
gene mutations. Molecular genetic approaches can lead to accurate diagnosis and management of CDA Ⅱ patients, particularly for those with GS coexisting.
Keyphrases
  • end stage renal disease
  • chronic kidney disease
  • genome wide
  • newly diagnosed
  • copy number
  • prognostic factors
  • high resolution
  • patient reported outcomes
  • single molecule
  • bioinformatics analysis