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Article

Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance.

Hemoglobin - 1 Mar 2018

Grimholt Runa M, Harteveld Cornelis L, Arkesteijn Sandra G J, Fjeld Bente, Klingenberg Olav

Abstract excerpt

Sequence variants located in the introns of the β-globin gene may affect the mRNA processing and cause β-thalassemia (β-thal). Sequence variants that change one of the invariant dinucleotides at the exon-intron boundaries may have fatal consequences for normal mRNA splicing. Intronic variants located far from obvious regulatory sequences can be more difficult to evaluate. There is a potential for...

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Source

Identifiers

PMID: 30047296
DOI: 10.1080/03630269.2018.1473255

Genes

HBB

Provenance

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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Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance.PMID 30047296Read ↗

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