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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 active in erythroid cells. In vivo, the ankyrin erythroid promoter and its upstream region direct position-independent,...

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Identifiers

PMID: 21099109
DOI: 10.1172/JCI42240
PMCID: PMC2993586

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis.PMID 21099109Read ↗

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