Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing-Reference-Cited by-同舟云学术

Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing

Published:2018-07 Issue: Volume:71 Page:39-44
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Mehri Maghsood,Zarin Maryam,Ardalani Fariba,Najmabadi Hossein,Azarkeivan Azita,Neishabury Maryam

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference20 articles.

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3. Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing;Cazzola;Hematology Am. Soc. Hematol. Educ. Program,2015

4. Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia;Bottomley;J. Bioenerg. Biomembr.,1995

5. A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia;Prades;Hum. Genet.,1995

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3. Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing;Archives of Iranian Medicine;2022-10-01

4. SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature;Human Mutation;2021-08-05

5. Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38;Pediatric Blood & Cancer;2020-08-13