Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.2009.07759.x/fullpdf
Reference24 articles.
1. Beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism;Bassères;British Journal of Haematology,2001
2. Beta-Spectrin São PauloII, a novel frameshift mutation of the beta-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA;Bassères;Brazilian Journal of Medical and Biological Research,2002
3. The Protein Data Bank;Berman;Nucleic Acids Research,2000
4. Human gene mutations affecting RNA processing and translation;Cooper;Annals of Medicine,1993
5. Localization and structure of the ankyrin-binding site on beta 2-spectrin;Davis;The Journal of Biological Chemistry,2009
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1. Hereditary spherocytosis due to a novel variant, p.Q1034X, in the beta subunit of the spectrin gene: A case report;Pediatric Hematology Oncology Journal;2024-09
2. Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis;Frontiers in Genetics;2023-12-04
3. Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin;Life;2023-01-04
4. Spherocytosis-related L1340P mutation in ankyrin affects its interactions with spectrin;2022-11-21
5. Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: A Case Report;Frontiers in Medicine;2022-02-11
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