Molecular mechanisms in the inherited red cell membrane disorders
Author:
Publisher
Elsevier BV
Subject
Drug Discovery,Molecular Medicine
Reference43 articles.
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2. Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population;Yawata;Int. J. Hematol.,2000
3. Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin;Hanspal;Blood,1991
4. Ankyrin-1 mutations are a major cause of dominant and recessive spherocytosis;Eber;Nat. Genet.,1996
5. Gallagher, P.G. (2005) Hematologically important mutations: ankyrin variants in hereditary spherocytosis. Blood Cells Mol. Dis. (Epub ahead of print)
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1. Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing;International Journal of Molecular Sciences;2021-10-12
2. Delay in the measurement of eosin-5′-maleimide (EMA) binding does not affect the test result for the diagnosis of hereditary spherocytosis;Clinical Chemistry and Laboratory Medicine (CCLM);2012-09-27
3. The use of real-time PCR technique in the detection of novel protein 4.2 gene mutations that coexist with thalassaemia alpha in a single patient;European Journal of Haematology;2009-10
4. Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA;British Journal of Haematology;2009-08
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