Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.

Escher, Pascal

Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions. [electronic resource] - Ophthalmic genetics - 80-86 p. digital

Publication Type: Journal Article

1744-5094

10.1080/13816810.2017.1393825 doi


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