Article
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
Proceedings of the National Academy of Sciences of the United States of America - 1 Apr 1997
Wise C A, Chiang L C, Paznekas W A, Sharma M, Musy M M, Ashley J A, Lovett M, Jabs E W
Abstract excerpt
Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial TCOF1 cDNA was identified and shown to contain mutations in TCS families. Here we present the entire exon/intron genomic structure and the complete coding sequence of TCOF1. T...
Topics
- Base Sequence
- Cloning, Molecular
- DNA, Complementary
- Female
- Humans
- Male
- Mandibulofacial Dysostosis
- Molecular Sequence Data
- Mutation
- Nuclear Proteins
- Phosphoproteins
- Syndrome