Associated Papers
Genetic Variants in Recurrent Euploid Pregnancy Loss.
Aminbeidokhti M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.
Ono K et al.
Scientific Reports, 2022
X-linked sideroblastic anaemia in a female fetus: a case report and a literature review.
Nzelu D et al.
Bmc Medical Genomics, 2021
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
Missense variants in ALAS2 gene in five patients.
Moreno-Carralero MI et al.
International Journal of Laboratory Hematology, 2019
A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review.
Fujiwara T et al.
Annals of Hematology, 2017
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