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Article

Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis.

The Journal of clinical investigation - 1 Dec 2010

Gallagher Patrick G, Steiner Laurie A, Liem Robert I, Owen Ashley N, Cline Amanda P, Seidel Nancy E, Garrett Lisa J, Bodine David M

Abstract excerpt

Defects of the ankyrin-1 gene are the most common cause in humans of hereditary spherocytosis, an inherited anemia that affects patients of all ethnic groups. In some kindreds, linked -108/-153 nucleotide substitutions have been found in the upstream region of the ankyrin gene promoter that is ac...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21099109
DOI: 10.1172/JCI42240
PMCID: PMC2993586

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21099109-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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