Molecular characterization of CTNS deletions in nephropathic cystinosis: Development of a PCR-based detection assay

Keyphrases

• Molecular Characterization 100%
• Cystine 100%
• Detection Assay 100%
• PCR Detection 100%
• Nephropathic Cystinosis 100%
• Autosomal Recessive 50%
• White People 50%
• Haplotype Analysis 50%
• Causative Gene 50%
• Homozygous Deletion 50%
• Recurrent mutation 50%
• Deletion Breakpoint 50%
• Founder Effect 50%
• Pathogenic mutations 50%
• Positional Cloning 50%
• Single-family 50%
• Large Deletion 50%
• Repetitive Sequences 50%
• Cystinosis 50%
• QPCR Assay 50%
• Lysosomal Membrane 50%
• Heterozygous Deletion 50%
• Frequent mutation 50%
• Non-homologous Recombination 50%
• Cloning Strategy 50%
• Heterozygous State 50%
• Rapid PCR 50%

Biochemistry, Genetics and Molecular Biology

• Cystine 100%
• Haplotype 50%
• Autosomal Recessive Disorder 50%
• Founder Effect 50%
• CTNS (Gene) 50%