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Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 4
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Identification of a New Mutation on the β-Globin Gene: Codons 8/9 (+AGAA); GAG.AAG.TCT(Glu-Lys-Ser)>GAG. AAAGAAG, in a Patient From the North of France with a Phenotype of β-Thalassemia Minor

Anne France Georgel Centre de Compétence Pour la Prise en Charge des Pathologies Erythrocytaires, Pôle de Biochimie et Biologie Moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille (CHRU), Lille, France
,
Claude Méreau Centre de Compétence Pour la Prise en Charge des Pathologies Erythrocytaires, Pôle de Biochimie et Biologie Moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille (CHRU), Lille, France
,
Christophe Willekens Centre de Compétence Pour la Prise en Charge des Pathologies Erythrocytaires, Hôpital Saint Vincent de Paul, Université Catholique de Lille (GH-ICL), Lille, France
,
Emmanuelle Bourgeois Centre de Compétence Pour la Prise en Charge des Pathologies Erythrocytaires, Hôpital Saint Vincent de Paul, Université Catholique de Lille (GH-ICL), Lille, France
,
Patrice Maboudou Centre de Compétence Pour la Prise en Charge des Pathologies Erythrocytaires, Pôle de Biochimie et Biologie Moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille (CHRU), Lille, France
,
Michel Crépin Plateau Commun de Séquençage, Pôle de Biochimie et Biologie Moléculaire, Centre de Biologie-Pathologie, CHRU Lille, France
,
Serge Pissard Service de Biochimie et de Genetique, APHP, hop Henri Mondor et Universite Paris Est Creteil (UPEC), France
&
Christian Rose Centre de Compétence Pour la Prise en Charge des Pathologies Erythrocytaires, Pôle de Biochimie et Biologie Moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille (CHRU), Lille, France; Centre de Compétence Pour la Prise en Charge des Pathologies Erythrocytaires, Hôpital Saint Vincent de Paul, Université Catholique de Lille (GH-ICL), Lille, FranceCorrespondence[email protected]
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Pages 389-393 | Received 19 Dec 2009, Accepted 24 Apr 2010, Published online: 19 Jul 2010

Citations (3)

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Read on this site (1)

Rakesh Kumar, Chandan Sagar, Dharmesh Sharma & Purnima Kishor. (2015) β-Globin Genes: Mutation Hot-Spots in the Global Thalassemia Belt. Hemoglobin 39:1, pages 1-8.
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Articles from other publishers (2)

Nina Marchi, Serge Pissard, Manuel Cliquennois, Christian Vasseur, Nathalie Le Metayer, Claude Mereau, Jean Pierre Jouet, Anne-France Georgel, Emmanuelle Genin & Christian Rose. (2014) Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA)). European Journal of Human Genetics 23:9, pages 1158-1164.
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Margherita Vinciguerra, Cristina Passarello, Filippo Leto, Filippo Cassarà, Monica Cannata, Aurelio Maggio & Antonino Giambona. (2014) Identification of three new nucleotide substitutions in the β -globin gene: laboratoristic approach and impact on genetic counselling for beta-thalassaemia . European Journal of Haematology 92:5, pages 444-449.
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