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)]
| Autor: | Philippe Lacan, Aurélie Desbrée, Alain Francina, Caroline Garcia, Philippe Joly, Nicole Couprie |
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| Rok vydání: | 2012 |
| Předmět: |
Male
Molecular Sequence Data Clinical Biochemistry medicine.disease_cause chemistry.chemical_compound Hemoglobin A2 medicine Humans Nucleotide Amino Acid Sequence Globin gene Gene Peptide sequence Genetics (clinical) chemistry.chemical_classification delta-Globins Mutation Base Sequence beta-Thalassemia Biochemistry (medical) Infant DNA Sequence Analysis DNA Hematology Middle Aged Molecular biology chemistry Female Delta-Globins |
| Zdroj: | Hemoglobin. 37:80-84 |
| ISSN: | 1532-432X 0363-0269 |
| Popis: | We report two new variants of the δ-globin gene: Hb A(2)-Saint-Etienne [δ14(A11)Leu→Pro] and Hb A(2)-Marseille [δ22(B4)Ala→Lys]. The first variant has a low rate of expression, the second results from a double nucleotide mutation on the same codon. |
| Databáze: | OpenAIRE |
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