Hb Foggia or alpha 117(GH5)Phe -> Ser: a new alpha 2 globin allele affecting the alpha Hb-AHSP interaction.
about
Hemoglobin variants: biochemical properties and clinical correlatesThe conserved Phe GH5 of importance for hemoglobin intersubunit contact is mutated in gadoid fishThe role of alpha-hemoglobin stabilizing protein in redox chemistry, denaturation, and hemoglobin assembly.Role of α-globin H helix in the building of tetrameric human hemoglobin: interaction with α-hemoglobin stabilizing protein (AHSP) and heme moleculeDescription of two new alpha variants: Hb Canuts [alpha85(F6)Asp-->His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe-->Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr-->Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-α-Thalassemia associated with hb instability: a tale of two features. the case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→ProChaperoning erythropoiesis.Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia.Analysis of human alpha globin gene mutations that impair binding to the alpha hemoglobin stabilizing proteinFaithful chaperones.A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease.Mutation near the binding interfaces at α-hemoglobin stabilizing protein is highly pathogenic.Alpha-hemoglobin-stabilizing protein: an erythroid molecular chaperone.Novel α2 gene deletion (c.349_359 del GAGTTCACCCC) identified in association with the -α3.7 deletion.Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: a new phenotypically silent hemoglobin variant associated with a mild alpha-thalassemia phenotype.
P2860
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P2860
Hb Foggia or alpha 117(GH5)Phe -> Ser: a new alpha 2 globin allele affecting the alpha Hb-AHSP interaction.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
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2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
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2008年學術文章
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2008年學術文章
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name
Hb Foggia or alpha 117
@nl
Hb Foggia or alpha 117(GH5)Phe ...... the alpha Hb-AHSP interaction.
@en
type
label
Hb Foggia or alpha 117
@nl
Hb Foggia or alpha 117(GH5)Phe ...... the alpha Hb-AHSP interaction.
@en
prefLabel
Hb Foggia or alpha 117
@nl
Hb Foggia or alpha 117(GH5)Phe ...... the alpha Hb-AHSP interaction.
@en
P2093
P356
P1433
P1476
Hb Foggia or alpha 117(GH5)Phe ...... the alpha Hb-AHSP interaction
@en
P2093
Angela Flagiello
Clelia Scarano
Clementina Carestia
Gennaro Musollino
Giuseppina Lacerra
P304
P356
10.3324/HAEMATOL.11789
P50
P577
2008-01-01T00:00:00Z