Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism

Keyphrases

• Exome Sequencing 100%
• Copper Metabolism 100%
• Genetic Causes 100%
• Number of Patients 100%
• Rare Disorders 100%
• Heavy Metal Metabolism 66%
• Positional Cloning 33%
• Next-generation Sequencing 33%
• Genomic Regions 33%
• Exome 33%
• Homozygosity Mapping 33%
• Pedigree 33%
• Whole Exome Sequencing 33%
• Whole Genome 33%
• Genetic Disease 33%
• Disease-causing mutations 33%
• Monogenetic 33%
• Families with multiples 33%
• Causative Gene 33%
• Comparisons with a Control 33%
• Basic Defect 33%
• Coding DNA Sequence 33%
• Rare Diseases 33%
• Genetic Defects 33%
• Novel Technique 33%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Exome Sequencing 100%
• Copper Metabolism 100%
• Metal Metabolism 50%
• Exome 25%
• Genomics 25%
• Next Generation Sequencing 25%
• Genetic Disorder 25%
• Homozygosity 25%
• Pedigree 25%