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Article

De novo mutation of the beta-globin gene initiation codon (ATG-->AAG) in a Northern European boy.

American journal of hematology - 1 Nov 1997

Waye J S, Eng B, Patterson M, Barr R D, Chui D H

Abstract excerpt

We present a case of beta-thalassemia intermedia involving a 13-year-old boy of Northern European descent. His mother, father and older sister have normal hematologic indices. Molecular studies demonstrate that the proband carries a novel mutation of the beta-globin gene initiation codon (ATG-->AAG) which should give rise to beta(0)-thalassemia trait. The possibility of non-paternity was excluded, indicating that...

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Identifiers

PMID: 9371531
DOI: 10.1002/(sici)1096-8652(199711)56:3<179::aid-ajh8>3.0.co;2-v

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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.

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De novo mutation of the beta-globin gene initiation codon (ATG-->AAG) in a Northern European boy.PMID 9371531Read ↗

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