Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation. [electronic resource]
Producer: 20151013Description: 4619-30 p. digitalISSN:- 1552-5783
- Adolescent
- Bestrophins
- Blotting, Western
- Cell Membrane -- metabolism
- Chloride Channels -- biosynthesis
- DNA -- genetics
- DNA Mutational Analysis
- Eye Diseases, Hereditary -- genetics
- Eye Proteins -- biosynthesis
- Female
- Fluorescein Angiography
- Fundus Oculi
- Gene Expression Regulation
- Genes, Recessive
- HEK293 Cells -- metabolism
- Humans
- Microscopy, Confocal
- Microscopy, Electron
- Microscopy, Fluorescence
- Mutation
- Patch-Clamp Techniques
- Retinal Diseases -- genetics
- Retinal Pigment Epithelium -- metabolism
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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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