Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families

Keyphrases

• Coding Sequence 16%
• Cysteine 16%
• Distinctive Features 16%
• DNA Sequencing 16%
• Electropherogram 16%
• Etiology 16%
• Exon 16%
• Exon 7 16%
• Exon 8 16%
• Genetic Studies 16%
• Genomic DNA (gDNA) 16%
• GLRA1 100%
• Glycine Receptor 16%
• Hereditary Hyperekplexia 100%
• Hyperekplexia 50%
• Hypertonia 16%
• Large Deletion 16%
• Missense mutation 16%
• Mutant Alleles 33%
• Mutational Heterogeneity 16%
• Neurological Conditions 16%
• Novel mutation 100%
• PCR Products 16%
• Protein Truncation 16%
• Receptor 1 16%
• Single-base Deletion 16%
• Startle Disease 16%
• Startle Reflex 16%
• Stiff Person Syndrome 16%
• Transmembrane Domain 16%
• Tryptophan 16%
• Turkish Family 100%

Biochemistry, Genetics and Molecular Biology

• Allele 66%
• Cysteine 33%
• DNA Sequence 33%
• Electrophoresis 33%
• Exon 100%
• Genetics 33%
• Genomics 33%
• Glycine Receptor 33%
• Missense Mutation 33%
• Startle Reflex 33%
• Transmembrane Domain 33%
• Tryptophan 33%

Medicine and Dentistry

• Allele 33%
• Base 16%
• Cysteine 16%
• DNA Sequence 16%
• Electrophoresis 16%
• Exon 50%
• Genomic DNA 16%
• Glycine Receptor 16%
• Hyperekplexia 100%
• Missense Mutation 16%
• Muscle Hypertonia 16%
• Startle Response 16%
• Stiff Person Syndrome 16%
• Tryptophan 16%