Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions. [electronic resource]
Producer: 20180326Description: 80-86 p. digitalISSN:- 1744-5094
- Adult
- Amino Acid Sequence
- DNA Mutational Analysis
- Female
- Fluorescein Angiography
- Genes, Dominant
- Genetic Association Studies
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Phenotype
- Protein Conformation
- RNA-Binding Proteins -- genetics
- Retinitis Pigmentosa -- diagnosis
- Ribonucleoproteins, Small Nuclear -- genetics
- Tomography, Optical Coherence
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Publication Type: Journal Article
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