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Article

Hematologically important mutations: ankyrin variants in hereditary spherocytosis.

Blood cells, molecules & diseases - 1 Jan 2000

Gallagher Patrick G

Abstract excerpt

The primary defect in the hereditary spherocytosis (HS) syndromes is a qualitative or quantitative alteration in one or more erythrocyte membrane proteins. Mutation of the erythrocyte membrane protein ankyrin are the most common cause of typical, dominant HS. Ankyrin mutations also cause nondominant spherocytosis due to ankyrin gene promoter or de novo mutations. In most cases, HS-related ankyrin mutations are...

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Identifiers

PMID: 16223590
DOI: 10.1016/j.bcmd.2005.08.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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