Article
Independent segregation of fundus albipunctatus and the transthyretin (prealbumin) gene.
Ophthalmic paediatrics and genetics - 1 Dec 1991
Kim R Y, Saperstein D A, Nickerson J M
Abstract excerpt
A defect in the visual cycle has been suspected in patients with fundus albipunctatus (FALB), rendering genes encoding visual cycle components etiologic candidates. One such component is the retinoid and thyroxine transport protein transthyretin (TTR, prealbumin) which in the eye is synthesized only in the retinal pigment epithelium and is believed to play a role in retinal retinoid transport. The authors...
Topics
- Alleles
- Base Sequence
- Family
- Female
- Genetic Linkage
- Genotype
- Humans
- Molecular Sequence Data
- Night Blindness
- Oligonucleotide Probes
- Pedigree
- Polymerase Chain Reaction