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Published in 2019 at "Haematologica"
DOI: 10.3324/haematol.2018.214320
Abstract: Loss-of-function mutations in the ATP-binding cassette (ABC) transporter of the inner mitochondrial membrane, ABCB7, cause X-linked sideroblastic anemia with ataxia, a phenotype that remains largely unexplained by the proposed role of ABCB7 in exporting a…
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Keywords:
heme biosynthesis;
ferrochelatase;
abcb7 abcb10;
iron ... See more keywords