A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.

Zhang, Shu

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