HSPA9 frameshift and loss‐of‐function mutations in a patient manifesting syndromic sideroblastic anemia and congenital anomalies
Author:
Affiliation:
1. Department of Pediatric Oncology/Hematology International Medical Center, Saitama Medical University Hidaka Japan
2. Department of Hematology Tohoku University Graduate School of Medicine, Sendai, Japan
Publisher
Wiley
Subject
Oncology,Hematology,Pediatrics, Perinatology and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.29971
Reference11 articles.
1. Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
2. Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A)
3. The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload
4. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
5. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness
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1. Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients;Annals of Hematology;2024-08-28
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