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 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
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
[A case report of X-linked sideroblastic anemia with novel ALAS2 gene mutation].
Bao SJ et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2019
Missense variants in ALAS2 gene in five patients.
Moreno-Carralero MI et al.
International Journal of Laboratory Hematology, 2019
Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship.
Liu G et al.
Haematologica, 2013
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