X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (24) 24
retinitis pigmentosa - genetics (22) 22
retinitis pigmentosa (20) 20
female (18) 18
rp11 (18) 18
eye proteins - genetics (17) 17
mutation (17) 17
male (16) 16
messenger-rna (15) 15
genetics & heredity (14) 14
index medicus (14) 14
locus (13) 13
pedigree (13) 13
adult (11) 11
genes, dominant (11) 11
penetrance (11) 11
19q13.4 rp11 (10) 10
genetics (10) 10
middle aged (10) 10
prpf31 (10) 10
disease (9) 9
mutations (9) 9
ophthalmology (9) 9
bimodal expressivity (8) 8
phenotype (8) 8
adolescent (7) 7
alleles (7) 7
eye proteins - metabolism (7) 7
genetic aspects (7) 7
aged (6) 6
article (6) 6
biochemistry & molecular biology (6) 6
eye diseases (6) 6
gene expression (6) 6
gene mutations (6) 6
genetic linkage (6) 6
prevalence (6) 6
research (6) 6
research article (6) 6
chinese family (5) 5
chromosomes, human, pair 19 - genetics (5) 5
deletion (5) 5
dna mutational analysis (5) 5
expression (5) 5
family (5) 5
haploinsufficiency (5) 5
lod score (5) 5
protein (5) 5
retinitis (5) 5
rna splicing - genetics (5) 5
analysis (4) 4
base sequence (4) 4
development and progression (4) 4
exons (4) 4
families (4) 4
gene (4) 4
genes, dominant - genetics (4) 4
genetic markers (4) 4
genotype (4) 4
incomplete penetrance (4) 4
linkage analysis (4) 4
microsatellite repeats (4) 4
molecular sequence data (4) 4
polymerase chain reaction (4) 4
retinitis pigmentosa - diagnosis (4) 4
retinitis pigmentosa - metabolism (4) 4
retinitis pigmentosa - pathology (4) 4
rna splicing gene (4) 4
sequence analysis, dna (4) 4
tri-snrnp (4) 4
young adult (4) 4
asian continental ancestry group - genetics (3) 3
binding (3) 3
child (3) 3
china (3) 3
dominant retinitis-pigmentosa (3) 3
electroretinography (3) 3
factor genes (3) 3
gene deletion (3) 3
gene mapping (3) 3
gene prpf31 (3) 3
genetic research (3) 3
haplotypes (3) 3
heterozygote (3) 3
identification (3) 3
mutation, missense (3) 3
photoreceptors (3) 3
physiological aspects (3) 3
polymorphism, single nucleotide (3) 3
proteins (3) 3
prp31 (3) 3
retina (3) 3
ribonucleic acid--rna (3) 3
rna splicing (3) 3
rp11 locus (3) 3
rp9 form (3) 3
splicing factor (3) 3
adrp (2) 2
allele (2) 2
amino acid sequence (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 03/2007, Volume 48, Issue 3, pp. 1330 - 1334
Journal Article
Neurochemistry International, ISSN 0197-0186, 2006, Volume 49, Issue 7, pp. 669 - 675
It has been reported that mutations of γPKC cause hereditary spinocerebellar atrophy type 14 (SCA14). Our recent study has revealed that the SCA14 mutant γPKC... 
RP11 | Retinitis pigmentosa | Protein kinase C gamma | PROTEIN-KINASE-C | CHROMOSOME 19Q | NUCLEAR | INCLUSIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | ATAXIA | NEUROSCIENCES | NEURODEGENERATIVE DISEASES | protein kinase C gamma | GENE | FAMILIES | retinitis pigmentosa | RP11 LOCUS | AGGREGATION
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 1998, Volume 62, Issue 5, pp. 1248 - 1252
Journal Article