X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. [electronic resource]
Producer: 20140604Description: 315-9 p. digitalISSN:- 1096-8652
- 5-Aminolevulinate Synthetase -- genetics
- Adult
- Aged
- Anemia, Sideroblastic -- blood
- Binding Sites
- Enhancer Elements, Genetic -- genetics
- Europe -- ethnology
- Female
- GATA Transcription Factors -- metabolism
- Genetic Diseases, X-Linked -- blood
- Genotype
- Humans
- Introns -- genetics
- Male
- Middle Aged
- Mutation
- Pedigree
- Young Adult
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Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
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