A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly. [electronic resource]
Producer: 20170721Description: 1011-28 p. digitalISSN:- 1540-9538
- Adolescent
- Bone Marrow Diseases -- genetics
- Cell Cycle Proteins -- genetics
- Cell Nucleus -- genetics
- Cells, Cultured
- Codon, Nonsense
- DNA Breaks, Double-Stranded
- DNA Helicases -- biosynthesis
- Female
- Gene Expression Regulation
- Genetic Linkage
- High-Throughput Nucleotide Sequencing
- Homozygote
- Humans
- Male
- Microcephaly -- genetics
- Nuclear Proteins -- genetics
- Protein Domains
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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