Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene. [electronic resource]
Producer: 20081114Description: 1549-58 p. digitalISSN:- 1090-0535
- Adult
- Animals
- Base Sequence
- Case-Control Studies
- Child
- DNA Mutational Analysis
- Electroretinography
- Eye Proteins -- genetics
- Family
- Female
- Fundus Oculi
- Heterozygote
- Humans
- Hungary
- Male
- Mice
- Middle Aged
- Molecular Sequence Data
- Mutation -- genetics
- Pedigree
- RNA Splice Sites -- genetics
- Retinoschisis -- genetics
- Tomography, Optical Coherence
- White People -- genetics
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Publication Type: Journal Article
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