Ankyrin Mutations in Hereditary Spherocytosis
Author:
Publisher
S. Karger AG
Subject
Hematology,General Medicine
Reference4 articles.
1. Delaunay J. The molecular basis of hereditary red cell membrane disorders. Blood Rev. 2007 Jan;21(1):1–20.
2. Eber SW, Gonzalez JM, Lux ML, Scarpa AL, Tse WT, Dornwell M, et al. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nat Genet. 1996 Jun;13(2):214–8.
3. Agarwal AM, Nussenzveig RH, Reading NS, Patel JL, Sangle N, Salama ME, et al. Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias. Br J Haematol. 2016 Sep;174(5):806–14.
4. Luo Y, Li Z, Huang L, Tian J, Xiong M, Yang Z. Spectrum of ankyrin mutations in hereditary spherocytosis: a case report and review of the literature. Acta Haematol. 2018;140(2):77–86.
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2. Novel Identification of Ankyrin-R in Cardiac Fibroblasts and a Potential Role in Heart Failure;International Journal of Molecular Sciences;2024-08-01
3. De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing;BMC Pediatrics;2023-01-16
4. Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin;Life;2023-01-04
5. Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum;Molecular Genetics and Genomics;2023-01-04
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