| First Author | Pondarre C | Year | 2007 |
| Journal | Blood | Volume | 109 |
| Issue | 8 | Pages | 3567-9 |
| PubMed ID | 17192398 | Mgi Jnum | J:136594 |
| Mgi Id | MGI:3796679 | Doi | 10.1182/blood-2006-04-015768 |
| Citation | Pondarre C, et al. (2007) Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. Blood 109(8):3567-9 |
| abstractText | 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. |
