Associated Papers
The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.
Jové-Solavera D et al.
Scientific Reports, 2025
40195342 (PubMed )
Supplement: 41598_2025_95590_MOESM1_ESM.pdf
Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients.
Dongerdiye R et al.
Annals of Hematology, 2024
Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting.
Sharma P et al.
The Journal of Molecular Diagnostics : Jmd, 2024
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Heeney MM et al.
Human Mutation, 2021
Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.
Ravindra N et al.
Journal of Clinical Pathology, 2021
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