Article
Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects.
Genomics - 1 Dec 1997
Schaefer L, Prakash S, Zoghbi H Y
Abstract excerpt
Microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant, male-lethal disorder associated with chromosomal rearrangements that result in deletions of the distal short arm of the X chromosome. In an effort to isolate expressed sequences from the 500-kb MLS critical region in...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Animals
- Base Sequence
- Conserved Sequence
- Cosmids
- Evolution, Molecular
- Exons
- GTP-Binding Proteins
- GTPase-Activating Proteins
- Genetic Techniques
- Humans
- Microphthalmos
- Molecular Sequence Data
- Mutation
- Sequence Analysis, DNA
- Sequence Homology, Amino Acid
- Skin Diseases