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Article

Low affinity and unstable hemoglobin variant caused by AAC-->ATC (Asn-->Ile) mutation at codon 108 of the beta-globin gene.

Haematologica - 1 May 2002

Ma Edmond S K, Chow Eudora Y D, Chan Amy Y Y, Chu Chung Ming, Lin Shek Ying, Chan Li Chong

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Share to Amino Acid Substitution
Share to Genetic Variation
Share to Globins
Share to Hemoglobins, Abnormal

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 12010673

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Low affinity and unstable hemoglobin variant caused by AAC-->ATC (Asn-->Ile) mutation at codon 108 of the beta-globin gene.PMID 12010673Read ↗

Novel, de novo, beta-globin variant with decreased oxygen affinity (HBB:c.317T>A, "Hemoglobin St. George") in a healthy child with low oxygen saturations and anemia.Semantic proximity Read ↗

A novel beta-globin mutation (HBB:c.107A>G; or codon 35 beta (A-->G)) at alpha-beta chain interfaces.Semantic proximity Read ↗

Hb Yuda or alpha 130(H13)Ala----Asp; a new alpha chain variant with low oxygen affinity.Semantic proximity Read ↗

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

Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the beta-globin gene.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 ↗

Hb Extremadura [β64(E8)Gly→Ser;β133(H11)Val→Leu]: a new molecular analysis.Semantic proximity Read ↗

A new unstable hemoglobin variant with low oxygen affinity: Hb Ilmenau [beta41 (C7)Phe-->Cys].Semantic proximity Read ↗

Characterization of Hb Aalborg, a new unstable hemoglobin variant, by fast atom bombardment mass spectrometry.Semantic proximity Read ↗

[A new abnormal hemoglobin: hemoglobin Ja-Paris 12 ala---asp].Semantic proximity Read ↗

Hb San Diego [beta 109(G11)Val-->Met] in an Iranian: further evidence for a mutational hot spot at position 109 of the beta-globin gene.Semantic proximity Read ↗

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

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