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
Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia.
Li J et al.
International Journal of Laboratory Hematology, 2020
Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.
Bailey HJ et al.
Nature Communications, 2020
32499479 (PubMed )
Supplement: 41467_2020_16586_MOESM1_ESM.docx
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Fouquet C et al.
British Journal of Haematology, 2019
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
Le Rouzic MA et al.
Blood Cells, Molecules & Diseases, 2017
Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.
Méndez M et al.
Molecular Genetics & Genomic Medicine, 2016
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