Biochemistry, Genetics and Molecular Biology
Autosomal Recessive Inheritance
100%
Retinitis pigmentosa
61%
Lod Score
45%
Exon
42%
Allele
38%
Genetics
33%
Haplotype
31%
Mouse
29%
TCF4
29%
Gene Linkage
27%
Missense Mutation
26%
Pedigree
24%
Linkage Analysis
22%
Missense
20%
Microsatellite Marker
20%
Microsatellite DNA
20%
Exome Sequencing
15%
Proteome
15%
Wild Type
14%
Sanger Sequencing
14%
Induced Pluripotent Stem Cell
13%
RP1
13%
Trinucleotide Repeat Expansion
12%
Embryonic Stem Cell
11%
Messenger RNA
11%
Intron
11%
Transcriptome
11%
Homozygosity
10%
Stem Cell
10%
Nonsense Mutation
10%
Gene Expression Profiling
9%
Phosphodiesterase
9%
Exome
9%
Candidate Gene
9%
CYP1B1
9%
LTBP2
9%
Peripheral Blood Mononuclear Cell
9%
Electroretinography
8%
Whole Genome Sequencing
8%
Zebra Fish
8%
Genotyping
8%
SLC4A11
8%
Autophagy
7%
Splice Site Mutation
7%
Tyrosine Kinase
6%
Transport Protein
6%
TULP1
6%
CRYAB
6%
Homeostasis
6%
Mitochondrial Membrane Transport Protein
6%
Keyphrases
Consanguineous
43%
Pakistani Family
42%
Autosomal Recessive
42%
Congenital Cataract
34%
Genomic DNA (gDNA)
19%
Ophthalmic Examination
19%
Retinal Degeneration
19%
Retinitis pigmentosa
18%
Logarithm of Odds
17%
Fuchs Dystrophy
17%
Familial Cases
17%
Primary Congenital Glaucoma
16%
Pakistani
16%
Consanguineous Family
16%
Corneal Endothelial Cells
15%
Blood Samples
14%
Genome Scan
14%
Novel Locus
14%
Two-point
14%
Autosomal Dominant Retinitis pigmentosa
12%
Transcription Factor 4 (TCF4)
12%
LOD Score
12%
Novel mutation
11%
Disease Phenotype
11%
Linkage Analysis
11%
Microsatellite Markers
10%
Missense mutation
10%
All-affected
10%
Mouse Lens
10%
Stem Cells
9%
Pedigree
9%
Sanger Sequencing
9%
Retinal Dystrophy
9%
Corneal Endothelium
8%
Whole Genome Sequencing
8%
Family Members
8%
Descemet Membrane
7%
Coding Exons
7%
CTG18.1
7%
FYCO1
7%
Stem Cell-derived
7%
LTBP2
6%
Congenital Stationary Night Blindness
6%
Whole-genome Sequence Data
6%
CYP1B1 mutations
6%
Mer Tyrosine Kinase
6%
Cigarette Smoking
6%
Genetic Basis
6%
CYP1B1
6%
Human Embryonic Stem Cells (hESCs)
5%
Medicine and Dentistry
Autosomal Recessive Inheritance
51%
Disease
33%
Congenital Cataract
31%
Corneal Dystrophy
27%
Genomic DNA
17%
Retinitis pigmentosa
16%
Cataract
16%
Exon
15%
Missense Mutation
14%
Agents Acting on the Eye
12%
Microsatellite Marker
10%
Stem Cell
10%
Endothelial Cell
10%
Linkage Analysis
10%
Pluripotent Stem Cell
9%
Induced Pluripotent Stem Cell
9%
Human Embryonic Stem Cell
8%
Haplotype
7%
Gene Linkage
6%
Congenital Stationary Night Blindness
6%
Autophagy
6%
Congenital Glaucoma
6%
Photograph
6%
Cornea Edema
6%
Sanger Sequencing
5%
Symptom
5%
Eye Disease
5%
Descemet's Membrane
5%
Epithelial Cell
5%
Ophthalmology
5%
