A novel missense mutation, G663A, in exon 5 of the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) was identified in a Japanese male with pyridoxine-responsive sideroblastic anemia. Activity of the mutant delta-aminolevulinate synthase protein expressed in vitro was 15.1% compared wit
✦ LIBER ✦
The MERRF mutation of mitochondrial DNA in the bone marrow of a patient with acquired idiopathic sideroblastic anemia
✍ Scribed by Wang, Yan-Ling; Choi, Hi-Kyung; Aul, Carlo; Gattermann, Norbert; Heinisch, J�rgen
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 425 KB
- Volume
- 60
- Category
- Article
- ISSN
- 0361-8609
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