1 - 25 of 2
| Creator | Title | Description | Subject | Date | ||
|---|---|---|---|---|---|---|
| 1 |
 |
Baehr, Wolfgang; Zhang, Kang | Characterization of human GRK7 as a potential cone opsin kinase | PURPOSE: Homozygous inactivation of the mouse gene for GRK1 (G protein-coupled receptor kinase 1, or rhodopsin kinase) causes severe defects in the recovery of cone phototransduction. However, electroretinographic (ERG) analyses of human oguchi patients with defective GRK1 alleles showed normal or s... | Amino Acid Sequence; Chromosomes, Human, Pair 3; Fluorescent Antibody Technique, Indirect | 2001 |
| 2 |
 |
Bernstein, Paul S.; Zabriskie, Norman A.; Zhang, Kang; Leppert, Mark F. | Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene | PURPOSE: A 5-bp deletion in ELOVL4, a photoreceptor-specific gene, has been associated with autosomal dominant (ad) macular dystrophy phenotypes in five related families, in which phenotypes range from Stargardt-like macular dystrophy (STGD3; Mendelian Inheritance in Man 600110) to pattern dystrophy... | Linkage (Genetics); Middle Older people; Phenotype | 2001 |
1 - 25 of 2