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pro vyhledávání: '"Catherine H-W Hsu"'
Autor:
Melanie Proven, Catherine H-W Hsu, Chris Fisher, Roderick Lynn, Jonathan Langdown, Anna Rose, Jennifer Eglinton, Martin Besser
Publikováno v:
Hemoglobin. 42(3)
We report a novel hemoglobin (Hb) variant with a β chain amino acid substitution at codon 78 (CTG>CCG) (HBB: c.236T>C), detected through prenatal screening via capillary electrophoresis (CE) in an otherwise healthy and asymptomatic 38-year-old femal