A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly. [electronic resource]
- The Journal of experimental medicine 05 2016
- 1011-28 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1540-9538
10.1084/jem.20151183 doi
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