Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation-Reference-Cited by-同舟云学术

Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation

Published:2017-07 Issue: Volume:66 Page:11-18
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Le Rouzic Marie-Amelyne,Fouquet Cyrielle,Leblanc Thierry,Touati Mohamed,Fouyssac Fanny,Vermylen Christiane,Jäkel Nadja,Guichard Jean-François,Maloum Karim,Toutain Fabienne^ORCID,Lutz Patrick,Perel Yves,Manceau Hana,Kannengiesser Caroline,Vannier Jean-Pierre

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference44 articles.

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3. Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations;Ducamp;Hum. Mutat.,2011

4. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations;Bergmann;Pediatr. Blood Cancer,2010

5. Sideroblastic anemia: diagnosis and management;Bottomley;Hematol Oncol Clin N,2014

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1. Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients;Annals of Hematology;2024-08-28

2. Two novel variants in the SLC25A38 gene among two Iranian families with congenital sideroblastic anemia;Human Gene;2024-02

3. Structural basis for dysregulation of aminolevulinic acid synthase in human disease;Journal of Biological Chemistry;2022-03

4. X-linked sideroblastic anaemia in a female fetus: a case report and a literature review;BMC Medical Genomics;2021-12

5. 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