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Article

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

Journal of clinical pathology - 1 Sept 2006

Percy M J, Cuthbert R J G, May A, McMullin M F

Abstract excerpt

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Topics

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Share to 5-Aminolevulinate Synthetase
Share to Anemia, Sideroblastic
Share to ALAS2 gene
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Pyridoxine

Share to Vitamin B Complex

Source

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Identifiers

PMID: 16935983
DOI: 10.1136/jcp.2005.030932
PMCID: PMC1860471

Genes

ALAS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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A novel mutation, Ile289Thr, in the ALAS2 gene in a family with pyridoxine responsive sideroblastic anaemia.PMID 16935983Read ↗

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

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

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutationsSemantic 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 g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype.Semantic proximity Read ↗

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

New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.Semantic proximity Read ↗

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

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