Title: Hematologically important mutations: Ankyrin variants in hereditary spherocytosis
Abstract: 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 private. A summary of reported HS-associated ankyrin gene mutations is provided in this report.
Publication Year: 2005
Publication Date: 2005-10-12
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 62
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