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Article

Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.

British journal of haematology - 1 Aug 2017

Rose Christian, Callebaut Isabelle, Pascal Laurent, Oudin Claire, Fournier Martine, Gouya Laurent, Lambilliotte Anne, Kannengiesser Caroline

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Share to Anemia, Sideroblastic
Share to 5-Aminolevulinate Synthetase
Share to Bone Marrow
Share to Erythrocyte Indices

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

Share to Genes, Lethal

Share to Genetic Diseases, X-Linked

Share to Germ-Line Mutation

Share to Protein Conformation

Source

Identifiers

PMID: 27292130
DOI: 10.1111/bjh.14164

Genes

ALAS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

Related research

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

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.PMID 27292130Read ↗

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

Gene symbol: ALAS2. Disease: 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 ↗

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

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

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia.Semantic proximity Read ↗

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

X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns.Semantic proximity Read ↗

X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation.Semantic proximity Read ↗

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutationSemantic proximity Read ↗

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