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HB Hinwil or beta 38(C4)Thr-->Asn: a new beta chain variant detected in a Swiss family.

Hemoglobin - 1 Feb 1996

Frischknecht H, Ventruto M, Hess D, Hunziker P, Rosatelli M C, Cao A, Breitenstein U, Fehr J, Tuchschmid P

Abstract excerpt

This paper reports a new hemoglobin variant which was identified while investigating the cause of a mild erythrocytosis. The abnormal beta-globin chain was detected by reversed phase chromatography. Mutation mapping of the beta-globin gene by polymerase chain reaction and denaturing gradient gel...

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Mutation
Molecular Sequence Data
Base Sequence
Amino Acid Sequence
Genetic Variation
Codon

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Chromatography, High Pressure Liquid

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Identifiers

PMID: 8745430
DOI: 10.3109/03630269609027908

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-8745430-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

HB Hinwil or beta 38(C4)Thr-->Asn: a new beta chain variant detected in a Swiss family.PMID 8745430Read ↗

Hb Hinwil [beta38(C4)Thr-->Asn, ACC>AAC] associated with beta0-thalassemia in a Sicilian child.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 Gouda [alpha 72(EF1)His-->Gln], a new silent alpha chain variant.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 ↗

Four new beta chain hemoglobin variants without clinical or hematological effects: Hb San Bruno [beta39(C5)Gln-->His]; Hb Fort Dodge [beta93(F9)Cys-Tyr]; Hb Rhode Island [beta116(G18)His-->Tyr]; and Hb Inglewood [beta142(H20)Ala-->Thr].Semantic proximity Read ↗

Hb Dartmouth (HBA2: c.200T>C): An α2-Globin Gene Associated with Hb H Disease in One Homozygous Patient.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 delfzicht [alpha9(A7)Asn-->Lys (alpha1)]: a new, clinically silent hemoglobin variant observed in a Dutch patient.Semantic proximity Read ↗

Hb Ryazan: An Elongated C-Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25.Semantic proximity Read ↗

Hb Geldrop St. Anna [beta94(FG1)Asp --> Tyr]: a new hemoglobin variant observed in a diabetic patient.Semantic proximity Read ↗

Hb Camperdown [alpha 2 beta 2 104(G6)Arg-->Ser] identified by DNA analysis in a Brazilian family.Semantic proximity Read ↗

Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant observed in four families from southern Austria.Semantic proximity Read ↗

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