A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. [electronic resource]
Producer: 19990629Description: 199-202 p. digitalISSN:- 1061-4036
- Aging
- Amino Acid Substitution
- Animals
- Chromosome Mapping
- Chromosomes, Artificial, Yeast
- Chromosomes, Human, Pair 2
- Corneal Dystrophies, Hereditary -- genetics
- Extracellular Matrix Proteins -- genetics
- Female
- Fluorescein Angiography
- Gene Expression Regulation
- Humans
- Male
- Mice
- Pigment Epithelium of Eye -- pathology
- Point Mutation
- Retinal Drusen -- genetics
- Transcription, Genetic
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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