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[New single point mutation at the initiation codon (ATG-AGG) identified in amplified genomic DNA of a Chinese with beta-thalassaemia].

Zhonghua yi xue za zhi - 1 May 1990

Xie S

Abstract excerpt

A new single nucleotide change at nt 2 of exon 1 of the beta-globin gene was identified in a Chinese female patient with beta-thalassaemia. Dot blot hybridization of the amplified genomic DNA with oligonucleotide probes showed that she carried the four base deletions at the codons 41/42. Direct DNA sequencing on the amplified DNA revealed that she also carried a new mutation (ATG-AGG) at the initiation codon on...

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PMID: 1975769

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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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