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Article

Hb Utrecht [alpha 2 129(H12)Leu-->Pro], a new unstable alpha 2-chain variant associated with a mild alpha-thalassaemic phenotype.

British journal of haematology - 1 Sept 1996

Harteveld C L, Giordano P C, Losekoot M, Heister J G, Batelaan D, van Delft P, Bruin M C, Bernini L F

Abstract excerpt

We describe a new alpha 2-globin gene point mutation found in six individuals of a three-generation Dutch family. The mutant, which is associated with a mild alpha-thalassaemic phenotype, is not detectable at the protein level. The alpha 2 cd129 (CTG-->CCG) transition was found by molecular analy...

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Identifiers

PMID: 8790146
DOI: 10.1046/j.1365-2141.1996.d01-1828.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8790146-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Hb Utrecht [alpha 2 129(H12)Leu-->Pro], a new unstable alpha 2-chain variant associated with a mild alpha-thalassaemic phenotype.PMID 8790146Read ↗

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