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Article

Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.

Blood - 15 Apr 2007

Pondarre Corinne, Campagna Dean R, Antiochos Brendan, Sikorski Lindsay, Mulhern Howard, Fleming Mark D

Abstract excerpt

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar ataxia, and is due to mutations in the mitochondrial ATP-binding cassette transporter Abcb7. Here, we show that Abcb7 is essential for hematopoiesis and formally demonstrate that XLSA/A is due to partial loss of function mutations in Abcb7 that directly or indirectly...

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Source

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Identifiers

PMID: 17192398
DOI: 10.1182/blood-2006-04-015768
PMCID: PMC1852240

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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