Molecular basis of clinical and morphological heterogeneity in hereditary elliptocytosis (HE) with spectrin αI variants
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.1993.tb03352.x/fullpdf
Reference43 articles.
1. Spαv/41: a common spectrin polymorphism at the αIV-αV domain junction. Relevance to the expression level of hereditary elliptocytosis due to α-spectrin variants located in trans;Alloisio;Journal of Clinical Investigation,1991
2. Spectrin Jendouba: an αII/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site;Alloisio;Blood,1992
3. Elliptocytogenic αI/36 spectrin S fax lacks 9 amino acids in helix 3 of repeat 4. Evidence for the activation of a cryptic 5′ splice site in exon 8 of spectrin α gene;Baklouti;Blood,1992
4. Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis;Coetzer;Blood,1987
5. Partial spectrin deficiency in hereditary pyropoikilocytosis;Coetzer;Blood,1986
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1. Case report: Whole-exome sequencing for a hereditary elliptocytosis case with an unexpectedly low HbA1c;Frontiers in Medicine;2023-12-12
2. Disorders of red cells and platelets;Blood Cells;2021-12-31
3. A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report;Hematology;2020-01-01
4. Dystrophin and Spectrin, Two Highly Dissimilar Sisters of the Same Family;Subcellular Biochemistry;2017
5. Disorders of Red Cells and Platelets;Blood Cells;2014-11-14
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