Article
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.
American journal of human genetics - 1 Nov 1998
Mears A J, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, Ritch R, Koop B, Kuo W L, Collins C, Marshall J, Gould D B, Pearce W, Carlsson P, Enerbäck S, Morissette J, Bhattacharya S, Hogan B, Raymond V, Walter M A
Abstract excerpt
Genetic linkage, genome mismatch scanning, and analysis of patients with alterations of chromosome 6 have indicated that a major locus for development of the anterior segment of the eye, IRID1, is located at 6p25. Abnormalities of this locus lead to glaucoma. FKHL7 (also called "FREAC3"), a membe...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 6
- DNA Primers
- DNA-Binding Proteins
- Exons
- Eye Abnormalities
- Female
- Forkhead Transcription Factors
- Gene Expression Regulation, Developmental
- Genetic Markers