TY  - GEN
AU  - Escher,Pascal
AU  - Passarin,Olga
AU  - Munier,Francis L
AU  - Tran,Viet H
AU  - Vaclavik,Veronika
TI  - Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions
SN  - 1744-5094
PY  - 2018///0326
KW  - Adult
KW  - Amino Acid Sequence
KW  - DNA Mutational Analysis
KW  - Female
KW  - Fluorescein Angiography
KW  - Genes, Dominant
KW  - Genetic Association Studies
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Protein Conformation
KW  - RNA-Binding Proteins
KW  - genetics
KW  - Retinitis Pigmentosa
KW  - diagnosis
KW  - Ribonucleoproteins, Small Nuclear
KW  - Tomography, Optical Coherence
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1080/13816810.2017.1393825
ER  -