Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. [electronic resource]
Producer: 20090702Description: 728-39 p. digitalISSN:- 1537-6605
- 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
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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