Keyphrases
Familial Mediterranean Fever
100%
Autosomal Recessive
62%
Jewish
54%
Cystinuria
49%
Israeli
46%
Israel
39%
Missense mutation
32%
Ashkenazi Jews
28%
Libyan
26%
Jews
25%
Polymorphic Ventricular Tachycardia
23%
SLC7A9
22%
Novel mutation
21%
SLC3A1
19%
Catecholamines
18%
Ashkenazi
18%
Intellectual Disability
18%
Disease Genes
18%
Kindred
17%
Short-arm
16%
LOD Score
16%
Jewish Population
16%
Genotype
15%
Family Members
14%
Mutation Analysis
14%
Fever
14%
Chromosome 16
14%
Familial Mediterranean Fever Patient
13%
Polymorphic Markers
13%
Jewish Family
13%
Fetus
13%
Cataract
13%
Moroccan
13%
Calsequestrin 2
12%
Heterozygote
12%
M694V
12%
Congenital Cataract
12%
Clinical Features
12%
Nonsense mutation
12%
Prenatal Diagnosis
11%
Cystine
11%
Amniocentesis
11%
Affected Family Members
11%
Direct Sequencing
10%
Exon
10%
Carrier Rate
10%
Bedouin
10%
Georgian
10%
Pathogenic Variants
10%
Jewish Patients
10%
Biochemistry, Genetics and Molecular Biology
Genetics
71%
Autosomal Recessive Inheritance
55%
MEFV
31%
Missense Mutation
29%
SLC3A1
28%
Haplotype
28%
Autosomal Dominant Inheritance
27%
Gene Linkage
26%
Genotyping
25%
Allele
25%
Exome Sequencing
24%
SLC7A9
23%
Exon
21%
Amino Acids
21%
Candidate Gene
19%
Homozygosity
19%
Genetic Disorder
18%
Lod Score
17%
Cystine
15%
Autosomal Recessive Disorder
14%
Amyloidosis
14%
Intellectual Disability
13%
Gene Mutation
13%
Catecholaminergic Polymorphic Ventricular Tachycardia
12%
Linkage Analysis
12%
Ventricular Tachycardia
11%
Proband
11%
Heterozygote
11%
Genetic Carrier
11%
Mouse
11%
Calsequestrin
10%
FMR1
10%
Nonsense Mutation
10%
Homozygote
10%
Newborn Screening
10%
Founder Effect
8%
Transporter Genes
8%
Chromosome 16
8%
Genotype Phenotype Correlation
8%
Chromosome 2p
8%
Missense
8%
Penetrance
7%
Chromosome 2
7%
Gene Linkage Disequilibrium
7%
Oxidoreductase
7%
Microsatellite DNA
7%
Microsatellite Marker
7%
Premutation
7%
Prevalence
7%
Population
7%
Medicine and Dentistry
Disease
41%
Autosomal Recessive Inheritance
27%
Catecholaminergic Polymorphic Ventricular Tachycardia
17%
Missense Mutation
14%
Familial Mediterranean Fever
14%
Calsequestrin
12%
Gene Linkage
9%
Faintness
9%
Epileptic Seizure
8%
Polymorphic Ventricular Tachycardia
8%
Down Syndrome
8%
Symptom
8%
Amniocentesis
7%
Newborn Screening
7%
Neoplasm
7%
Hypotrichosis
7%
Carney Complex
7%
Autosomal Dominant Inheritance
6%
Neonatal Infant
6%
Exon
6%
Alexander Disease
5%
Ventricular Tachycardia
5%
Disease Course
5%
Clinical Syndrome
5%
Emotional Stress
5%
Sudden Death
5%
Maternal Age
5%
Prenatal Diagnosis
5%