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An identical mutation carried by different genes: Hb Frankfurt [alpha50(CE8)His->Gln].

Haematologica - 1 May 2003

Préhu Claude, Francina Alain, Behnken Lütje Jürgen, Promé Danielle, Galactéros Frédéric, Wajcman Henri

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PMID: 12745288

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Related research

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Research trail→

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An identical mutation carried by different genes: Hb Frankfurt [alpha50(CE8)His->Gln].PMID 12745288Read ↗

Hb aubagne [beta64(E8)Gly-Ala]: a new unstable beta chain variant found in a French family.Semantic proximity Read ↗

Hb Manawatu [alpha 37(C2)Pro-->Leu]: a new mildly unstable mutation at an invariant proline residue.Semantic proximity Read ↗

Hb Schlierbach or beta108(G10)Asn-->Ile: a new variant with low oxygen affinity detected in a Swiss family.Semantic proximity Read ↗

A second case of Hb Renert [beta133(H11)Val --> Ala].Semantic proximity Read ↗

Hb Gerland [alpha55(E4)Val-->Ala (alpha2)]: a new neutral alpha chain variant involving the alpha2 gene.Semantic proximity Read ↗

Hb Nottingham or alpha 2 beta 2(98)(FG5)Val----Gly observed as a de novo mutation in a Canadian child.Semantic proximity Read ↗

Hb Kurosaki [alpha 7(A5)Lys-->Glu]: a new alpha chain variant found in a Japanese woman.Semantic proximity Read ↗

A novel beta-globin variant: Hb Poços de Caldas [beta 61(E5)Lys-->Gln].Semantic proximity Read ↗

Hb I-Toulouse [beta 66(E10)Lys->Glu] in association with alpha-thalassemia.Semantic proximity Read ↗

Hb Castilla [beta32(B14)Leu --> Arg] caused by a de novo mutation.Semantic proximity Read ↗

Hb J-Europa [beta 62(E6)Ala-->Asp]: normal oxygen binding properties in a new variant involving a residue located distal to the heme.Semantic proximity Read ↗

Hb Roubaix [alpha55(E4)Val-->Leu]: a new neutral hemoglobin variant involving the alpha1 gene.Semantic proximity Read ↗

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