Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. [electronic resource]
- American journal of human genetics Jun 2009
- 728-39 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2009.04.017 doi
Amino Acid Sequence Animals Case-Control Studies Cell Line Chromosomes, Human, Pair 12--genetics Cricetinae DNA-Directed RNA Polymerases--genetics Female Fetal Growth Retardation--genetics Fibroblasts--cytology Genes, Recessive Humans Immunoblotting Male Models, Molecular Molecular Sequence Data Mutation--genetics Organelle Biogenesis Pedigree Protein Conformation Psychomotor Disorders--genetics RNA, Messenger--genetics Ribosomes--genetics Sequence Homology, Amino Acid Syndrome Two-Hybrid System Techniques