Publications by authors named "Allan Pernudy-Ubau"
Article Synopsis
- Hemoglobin (Hb) is a protein that transports oxygen in the blood and consists of α- and β-globin subunits.
- The Hb Presbyterian mutation (HBB: c.327 C>G) replaces asparagine with lysine in the β-globin gene, resulting in lower oxygen affinity.
- This study reports the identification of this mutation in a 6-year-old girl and her father from Nicaragua and Cuba, marking the first such case documented in Latin America.
