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Article

Coinheritance of a Rare Nucleotide Substitution on the β-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling.

Hemoglobin - 1 Aug 2016

Vinciguerra Margherita, Passarello Cristina, Leto Filippo, Crivello Anna, Fustaneo Maria, Cassarà Filippo, Cannata Monica, Maggio Aurelio, Giambona Antonino

Abstract excerpt

A large number of methods for DNA analysis are available to identify defects in globin genes associated with hemoglobin (Hb) disorders. In this study, we report a rare nucleotide (nt) substitution on the β-globin gene, nt 781 in the second intron [IVS-II-781 (C > G); HBB: c.316-70C > G], identified in four patients. This nt substitution was previously described only as a personal communication to the HbVar...

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Source

Identifiers

PMID: 27258795
DOI: 10.1080/03630269.2016.1188400

Genes

HBB
HBD

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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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Coinheritance of a Rare Nucleotide Substitution on the β-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling.PMID 27258795Read ↗

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