Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in [electronic resource]
Producer: 20180214Description: 187-194 p. digitalISSN:- 1468-2079
- Corneal Dystrophies, Hereditary -- diagnosis
- Cytochrome P450 Family 4 -- genetics
- DNA -- genetics
- DNA Mutational Analysis
- Electroretinography
- Female
- Fluorescein Angiography
- Follow-Up Studies
- Forecasting
- Fundus Oculi
- Genes, Recessive
- Homozygote
- Humans
- Middle Aged
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Retinal Diseases -- diagnosis
- Retinal Pigment Epithelium -- pathology
- Visual Acuity
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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