Armistead, Joy

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