Familial dysautonomia: Detection of the IKBKAP IVS20^{+6T → C} and R696P mutations and frequencies among Ashkenazi Jews

Keyphrases

• Ashkenazi Jews 100%
• Familial Dysautonomia 100%
• IKBKAP 100%
• Carrier Frequency 28%
• Jewish Patients 28%
• Diagnostic Test 14%
• Associated Proteins 14%
• Jewish Population 14%
• Haplotype Analysis 14%
• Disease Incidence 14%
• Autosomal Recessive 14%
• Carrier Screening 14%
• Hybridization Assay 14%
• Single-cell PCR 14%
• Oligonucleotide Hybridization 14%
• New York Metropolitan Area 14%
• Allele-specific Oligonucleotides 14%
• Jewish Community 14%
• Carrier Detection 14%
• Splicing mutation 14%
• Single Allele 14%
• Genetic Neuropathies 14%
• Common Founder 14%
• KAP Gene 14%

Biochemistry, Genetics and Molecular Biology

• IKBKAP 100%
• Phosphotransferase 50%
• Kinase 50%
• Haplotype 50%
• Autosomal Recessive Inheritance 50%
• Allele-Specific Oligonucleotide 50%
• Splice Site Mutation 50%

Neuroscience

• Dysautonomia 100%
• IKBKAP 100%
• Haplotype 16%
• Kinase 16%
• Allele-Specific Oligonucleotide 16%
• Neuropathy 16%