Article
Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.
Human molecular genetics - 1 Oct 1998
Marsh K L, Dixon J, Dixon M J
Abstract excerpt
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCS gene ( TCOF1 ), which is localized to chromosome 5q32-q33.1, recently has been identified by positional cloning. Analysis...
Topics
- Animals
- Blotting, Western
- Green Fluorescent Proteins
- Humans
- Immunohistochemistry
- Intracellular Signaling Peptides and Proteins
- Luminescent Proteins
- Mandibulofacial Dysostosis
- Mice
- Mutagenesis, Site-Directed
- Mutation
- Nuclear Proteins
- Phosphoproteins
- Rabbits
- Recombinant Proteins
- Structure-Activity Relationship
- Subcellular Fractions