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pro vyhledávání: '"Mai Kelany"'
Autor:
Nancy van Bijlen, Adie Viljoen, John S. Pickersgill, Namir Al Hasso, Martin Besser, Mai Kelany
Publikováno v:
Hemoglobin. 40:345-348
We present a case of a novel pathogenic variant, Hb Kalavasos [α91(FG3)Leu→His (α2); HBA2: c.275T > A; p.Leu92His (NM_000517.4)]; this codon was previously numbered 91 on the α2-globin gene that was discovered following routine Hb A1c testing on