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- Title
An insertion/deletion polymorphism in the KLF1 gene resulting in an In(Lu) phenotype.
- Authors
Floch, Aline; Vege, Sunitha; Burgos, Anna; Kuchma, Sharon; Bell, Mollie; Lomas‐Francis, Christine; Westhoff, Connie M.
- Abstract
The insertion/deletion polymorphism was not found on GnomAD.4 BRIEF SUMMARY A novel 8-bp insertion/deletion polymorphism in the I KLF1 i gene, c.538 545delGGCTACTT (p. Gly180Profs*170), associated with the dominant In(Lu) phenotype, was identified in a blood donor. The KLF1 (Krüppel-like factor 1) gene does not encode a blood group system but rather a transcription factor.
- Subjects
PHENOTYPES; GENETIC polymorphisms; GENETIC variation; DELETION mutation; BLOOD group antigens; BLOOD groups; GENETIC mutation
- Publication
Transfusion, 2021, Vol 61, Issue 10, pE73
- ISSN
0041-1132
- Publication type
Article
- DOI
10.1111/trf.16648