A New Hemoglobin Variant: Hb Meylan [β73(E17)Asp → Phe;HBB: c.220G>T; c.221A>T] with a Double Base Mutation at the Same Codon
Author:
Publisher
Informa UK Limited
Subject
Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology
Link
http://www.tandfonline.com/doi/pdf/10.3109/03630269.2014.982760
Reference15 articles.
1. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
2. Hb Nebraska [β86(F2)Ala→Ile (HBB:c.259G>A;260C>T)]: A Unique High Oxygen Affinity Hemoglobin Variant with a Double Nucleotide Substitution within the Same Codon
3. Two New δ-Globin Gene Variants: Hb A2-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A2-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)]
4. Detection of a Thalassemic α-Chain Variant (Hemoglobin Groene Hart) by Reversed-Phase Liquid Chromatography
5. Strategy for Identification by Mass Spectrometry of a New Human Hemoglobin Variant with Two Mutations inCisin the β-Globin Chain: Hb S-Clichy [β6(A3)Glu→Val; β8(A5)Lys→Thr]
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