Journal article
C. Pondarré, D. Campagna, B. Antiochos, L. Sikorski, H. Mulhern, M. Fleming
Blood, 2007
Blood, 2007
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APA
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Pondarré, C., Campagna, D., Antiochos, B., Sikorski, L., Mulhern, H., & Fleming, M. (2007). Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. Blood.
Chicago/Turabian
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Pondarré, C., D. Campagna, B. Antiochos, L. Sikorski, H. Mulhern, and M. Fleming. “Abcb7, The Gene Responsible for X-Linked Sideroblastic Anemia with Ataxia, Is Essential for Hematopoiesis.” Blood (2007).
MLA
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Pondarré, C., et al. “Abcb7, The Gene Responsible for X-Linked Sideroblastic Anemia with Ataxia, Is Essential for Hematopoiesis.” Blood, 2007.
BibTeX Click to copy
@article{c2007a,
title = {Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.},
year = {2007},
journal = {Blood},
author = {Pondarré, C. and Campagna, D. and Antiochos, B. and Sikorski, L. and Mulhern, H. and Fleming, M.}
}
Abstract
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 inhibit heme biosynthesis.
