Journal
BLOOD
Volume 109, Issue 8, Pages 3567-3569Publisher
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2006-04-015768
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Funding
- NIDDK NIH HHS [DK 62474] Funding Source: Medline
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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 hematopoesis and formally demonstrate that XLSA/A is due to partial loss of function mutations in Abcb7 that directly or indirectly inhibit heme biosynthesis.
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