Hereditary elliptocytosis: A novel mutation in the SPTA1 gene and diagnosis after a stroke in paediatric patients. A two‐case report
Author:
Affiliation:
1. Hospital Materno Infantil Virgen de las Nieves de Granada Granada Spain
2. Hospital Universitario Virgen de las Nieves Granada Spain
Publisher
Wiley
Subject
Oncology,Hematology,Pediatrics, Perinatology and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.30316
Reference20 articles.
1. Advances in understanding the pathogenesis of red cell membrane disorders
2. Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis
3. Hemolytic anemias due to erythrocyte membrane defects;Soler Noda G;Rev Cubana Hematol,2020
4. Online Mendelian Inheritance in Man OMIM®.McKusick‐Nathans Institute of Genetic Medicine Johns Hopkins University. MIM number {phenotype MIM number 130600; Gene MIM number 182860} {05/05/2022}.https://omim.org/
5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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