A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis-Reference-Cited by-同舟云学术

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A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

Published:2016-10-06 Issue:1 Volume:96 Page:163-165
ISSN:0939-5555
Container-title:Annals of Hematology
language:en
Short-container-title:Ann Hematol

Author:

Bogusławska Dżamila M.,Heger Elżbieta,Machnicka Beata,Skulski Michał,Kuliczkowski Kazimierz,Sikorski Aleksander F.

Funder

Narodowe Centrum Nauki, Poland

Publisher

Springer Science and Business Media LLC

Subject

Hematology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00277-016-2838-0.pdf

Reference10 articles.

1. Basseres DS, Tavares AC, Costa FF, Saad ST (2002) beta-Spectrin Sao PauloII, a novel frameshift mutation of the beta-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA. Braz J Med Biol Res 35(8):921–925, doi:S0100-879X2002000800009

2. Bogusławska DM, Heger E, Baldy-Chudzik K et al (2006) (AC)n microsatellite polymorphism and 14-nucleotide deletion in exon 42 ankyrin-1 gene in several families with hereditary spherocytosis in a population of South-Western Poland. Ann Hematol 85(5):337–339. doi: 10.1007/s00277-006-0083-7

3. Bogusławska DM, Heger E, Chorzalska A et al (2004) Hereditary spherocytosis: identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland. Ann Hematol 83(1):28–33. doi: 10.1007/s00277-003-0739-5

4. Bogusławska DM, Heger E, Listowski M et al (2014) A novel L1340P mutation in the ANK1 gene is associated with hereditary spherocytosis? Br J Haematol 167(2):269–271

5. Delaunay J (2007) The molecular basis of hereditary red cell membrane disorders. Blood Rev 21(1):1–20. doi: 10.1016/j.blre.2006.03.005

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1. Hereditary Spherocytosis with Mitochondrial Retention, Increased Oxidative Stress, and Alterations to Bioactive Membrane Lipids;Journal of Pediatric Hematology/Oncology;2024-06-24

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. Novel Variant of the SLC4A1 Gene Associated with Hereditary Spherocytosis;Biomedicines;2023-03-05

4. Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin;Life;2023-01-04

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