TY  - GEN
AU  - Zhang,Shu
AU  - Pondarre,Corinne
AU  - Pennarun,Gaelle
AU  - Labussiere-Wallet,Helene
AU  - Vera,Gabriella
AU  - France,Benoit
AU  - Chansel,Marie
AU  - Rouvet,Isabelle
AU  - Revy,Patrick
AU  - Lopez,Bernard
AU  - Soulier,Jean
AU  - Bertrand,Pascale
AU  - Callebaut,Isabelle
AU  - de Villartay,Jean-Pierre
TI  - A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly
SN  - 1540-9538
PY  - 2017///0721
KW  - Adolescent
KW  - Bone Marrow Diseases
KW  - genetics
KW  - Cell Cycle Proteins
KW  - Cell Nucleus
KW  - Cells, Cultured
KW  - Codon, Nonsense
KW  - DNA Breaks, Double-Stranded
KW  - DNA Helicases
KW  - biosynthesis
KW  - Female
KW  - Gene Expression Regulation
KW  - Genetic Linkage
KW  - High-Throughput Nucleotide Sequencing
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Microcephaly
KW  - Nuclear Proteins
KW  - Protein Domains
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1084/jem.20151183
ER  -