Article
Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and Ankyloglossia (CPX) critical region.
Genomics - 1 Mar 2001
Braybrook C, Warry G, Howell G, Arnason A, Bjornsson A, Moore G E, Ross M T, Stanier P
Abstract excerpt
X-linked cleft palate (CPX) is a rare nonsyndromic form of orofacial clefting that is, unlike more common forms, inherited as a highly penetrant Mendelian trait. Linkage studies using a large Icelandic kindred localized the gene to Xq21.3, and a physical map defining a 2.0-Mb candidate region was subsequently constructed. Genomic sequence is now available for much of the critical region and has been surveyed for...
Topics
- Adult
- Alternative Splicing
- Amino Acid Motifs
- Animals
- Carrier Proteins
- Chromosome Mapping
- Cleft Palate
- Cytoskeletal Proteins
- Drosophila
- Drosophila Proteins