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Article

A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia.

Annals of laboratory medicine - 1 Mar 2014

Moon Soo Young, Jun In-Jae, Kim Ji-Eun, Lee Seung Jun, Kim Hyun Kyung, Yoon Sung-Soo

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Share to 5-Aminolevulinate Synthetase
Share to Anemia, Sideroblastic
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 24624355
DOI: 10.3343/alm.2014.34.2.159
PMCID: PMC3948832

Genes

ALAS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia.PMID 24624355Read ↗

Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.Semantic proximity Read ↗

A novel mutation, Ile289Thr, in the ALAS2 gene in a family with pyridoxine responsive sideroblastic anaemia.Semantic proximity Read ↗

De novo hemizygous P.Arg204Leu mutation in ALAS2 Gene in young Indian male with X-linked sideroblastic anemia: A case reportSemantic proximity Read ↗

A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia.Semantic proximity Read ↗

Gene symbol: ALAS2. Disease: sideroblastic anaemia.Semantic proximity Read ↗

Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients.Semantic proximity Read ↗

[A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia].Semantic proximity Read ↗

A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia.Semantic proximity Read ↗

[Congenital sideroblastic anemia-a new family with identification of K156E mutation of ALAS2 gene and literature review].Semantic proximity Read ↗

A case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia.Semantic proximity Read ↗

A Case Report of Congenital Sideroblastic Anemia Caused by A Novel ALAS2 Mutation in Conjunction with ThalassemiaSemantic proximity Read ↗

A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype.Semantic proximity Read ↗

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