Article
Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.
Genomics - 1 Jun 2003
Ferrante Maria I, Barra Adriano, Truong Jean-Pierre, Banfi Sandro, Disteche Christine M, Franco Brunella
Abstract excerpt
Oral-facial-digital type 1 (OFD1) syndrome is an X-linked dominant condition characterized by malformations of the face, oral cavity, and digits. The responsible gene, OFD1, maps to human Xp22 and has an unknown function. We isolated and characterized the mouse Ofd1 gene and showed that it is sub...
Topics
- Amino Acid Sequence
- Animals
- Conserved Sequence
- Disease Models, Animal
- Dosage Compensation, Genetic
- Gene Components
- Gene Dosage
- Genetic Diseases, X-Linked
- Heat-Shock Proteins
- Humans
- Mice
- Molecular Sequence Data
- Mutation
- Proteins
- Sequence Alignment
- Sex Chromosomes
- Tissue Distribution