TY  - JOUR
AU  - Rose, Anna M
AU  - Shah, Amna Z
AU  - Venturini, Giulia
AU  - Krishna, Abhay
AU  - Chakravarti, Aravinda
AU  - Rivolta, Carlo
AU  - Bhattacharya, Shomi S
PY  - 2016
DO  - 10.1038/srep19450
UR  - http://hdl.handle.net/10668/9744
T2  - Scientific reports
AB  - PRPF31-associated retinitis pigmentosa presents a fascinating enigma: some mutation carriers are blind, while others are asymptomatic. We identify the major molecular cause of this incomplete penetrance through three cardinal features: (1) there is...
LA  - en
KW  - Alleles
KW  - Binding Sites
KW  - Conserved Sequence
KW  - DNA Copy Number Variations
KW  - Eye Proteins
KW  - Gene Expression
KW  - Gene Expression Regulation
KW  - Gene Frequency
KW  - Genes, Reporter
KW  - Genetics, Population
KW  - Genotype
KW  - Humans
KW  - Nucleotide Motifs
KW  - Penetrance
KW  - Phenotype
KW  - Position-Specific Scoring Matrices
KW  - Promoter Regions, Genetic
KW  - Repetitive Sequences, Nucleic Acid
KW  - Retinitis Pigmentosa
KW  - Scavenger Receptors, Class A
KW  - Transcription, Genetic
TI  - Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.
TY  - research article
VL  - 6
ER  -