Keyphrases
Affected Family Members
11%
Amniocentesis
11%
Ashkenazi
18%
Ashkenazi Jews
28%
Autosomal Recessive
62%
Bedouin
11%
Calsequestrin 2
12%
Carrier Rate
10%
Cataract
13%
Catecholamines
18%
Chromosome 16
14%
Clinical Features
12%
Congenital Cataract
12%
Cystine
11%
Cystinuria
49%
Direct Sequencing
10%
Disease Genes
18%
Exon
10%
Familial Mediterranean Fever
100%
Familial Mediterranean Fever Patient
13%
Family Members
14%
Fetus
13%
Fever
14%
Genotype
15%
Georgian
10%
Heterozygote
12%
Intellectual Disability
18%
Israel
45%
Israeli
51%
Jewish
56%
Jewish Family
13%
Jewish Patients
10%
Jewish Population
16%
Jews
25%
Kindred
17%
Libyan
26%
LOD Score
16%
M694V
12%
Missense mutation
32%
Moroccan
13%
Mutation Analysis
14%
Nonsense mutation
12%
Novel mutation
21%
Pathogenic Variants
12%
Polymorphic Markers
13%
Polymorphic Ventricular Tachycardia
23%
Prenatal Diagnosis
11%
Short-arm
16%
SLC3A1
19%
SLC7A9
22%
Biochemistry, Genetics and Molecular Biology
Allele
27%
Amino Acids
21%
Amyloidosis
18%
Autosomal Dominant Inheritance
28%
Autosomal Recessive Disorder
14%
Autosomal Recessive Inheritance
51%
Calsequestrin
10%
Candidate Gene
19%
Catecholaminergic Polymorphic Ventricular Tachycardia
12%
Chromosome 16
8%
Chromosome 2
7%
Chromosome 2p
8%
Cystine
15%
Exome Sequencing
25%
Exon
21%
FMR1
10%
Founder Effect
8%
Gene Linkage
26%
Gene Linkage Disequilibrium
7%
Gene Mutation
13%
Genetic Carrier
11%
Genetic Disorder
18%
Genetics
77%
Genomics
18%
Genotype Phenotype Correlation
8%
Genotyping
25%
Haplotype
28%
Heterozygote
11%
Homozygosity
19%
Homozygote
10%
Intellectual Disability
13%
Linkage Analysis
12%
Lod Score
17%
MEFV
31%
Microsatellite
7%
Microsatellite Marker
7%
Missense
8%
Missense Mutation
29%
Newborn Screening
10%
Nonsense Mutation
10%
Oxidoreductase
7%
Penetrance
7%
Premutation
7%
Prevalence
11%
Proband
11%
Sinus Bradycardia
7%
SLC3A1
28%
SLC7A9
23%
Transporter Genes
8%
Ventricular Tachycardia
11%
