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Article

Phenotypic Evaluation of a Novel Nucleotide Substitution (HBD: c.442T>C) on the δ-Globin Gene.

Hemoglobin - 1 May 2017

Cassarà Filippo, Vinciguerra Margherita, Cannata Monica, Marchese Giorgio, Passarello Cristina, Leto Filippo, Maggio Aurelio, Giambona Antonino

Abstract excerpt

HBD: c.442T>C is a new mutation at the stop codon (TGA>CGA) of the δ-globin gene, which produces a new codon for arginine. This substitution causes a 51 nucleotides longer open reading frame determining the synthesis of a potential larger δ subunit, which is a probable target of mechanisms for the degradation of aberrant proteins as well as the defective synthesized mRNA molecules, and may also be rapidly...

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Source

Identifiers

PMID: 28840768
DOI: 10.1080/03630269.2017.1371036

Genes

HBD
CGA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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