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Hb Clinico-Madrid II [alpha90(FG2)Lys-->Arg (alpha1)] and Hb El Escorial [alpha96(G3)Val-->Asp (alpha2)]: two new a chain variants found during a neonatal period study.

Hemoglobin - 1 Aug 2003

Villegas Ana, Hojas Ricardo, González Fernando A, Ropero Paloma, Carreño Dolores L

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PMID: 12908804
DOI: 10.1081/hem-120023383

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Hb Clinico-Madrid II [alpha90(FG2)Lys-->Arg (alpha1)] and Hb El Escorial [alpha96(G3)Val-->Asp (alpha2)]: two new a chain variants found during a neonatal period study.PMID 12908804Read ↗

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

Hb A2-Sant' Antioco [alpha 2 delta (2)93(F9)Cys-->Gly]: a new delta chain variant identified by sequencing of amplified DNA.Semantic proximity Read ↗

Hb Limassol [beta8(A5)Lys-->Asn]: a new hemoglobin variant.Semantic proximity Read ↗

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

A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26 Glu-->Asp (B8), detected by DNA analysis in a family of southern Italian origin.Semantic proximity Read ↗

A new unstable alpha2-globin gene variant: Hb Chartres [alpha33(B14)Phe --> Ser].Semantic proximity Read ↗

Two new alpha chain variants found during glycated hemoglobin screening: Hb Tatras [alpha 7(A5)Lys-->Asn] and HB Lisbon [alpha 23(B4)Glu-->Asp].Semantic proximity Read ↗

Two new alpha chain variants: Hb Die [alpha93(FG5)Val --> Ala (alpha1)] and Hb Beziers [alpha99(G6)Lys --> Asn (alpha1)].Semantic proximity Read ↗

Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha9(alpha7)Asn-->Lys (alpha2)], Hb Norton [alpha72(EF1)His-->Asp (alpha2)], Hb Lombard [alpha103(G10)His-->Tyr (alpha2)], and Hb San Antonio [A113(GH2)Leu-->Arg (A2)].Semantic proximity Read ↗

Hb Aubenas [beta 62(B8)Glu-->Gly]: a new variant normally synthesized, affecting the same codon as in Hb E.Semantic proximity Read ↗

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

Hb D-Agri [beta9(A6)Ser --> Tyr;beta121(GH4)Glu --> Gln]: a new Indian hemoglobin variant with two amino acid substitutions in the same beta chain.Semantic proximity Read ↗

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