Identification of a Nonsense Mutation at Codon 128 of the Norrie's Disease Gene in a Male Infant

Medicine & Life Sciences

• Norrie disease 100%
• Nonsense Codon 66%
• Codon 57%
• Genes 23%
• Cysteine 20%
• Mutation 16%
• Point Mutation 14%
• DNA 12%
• Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9%
• Eye 9%
• Phenotype 8%
• Terminator Codon 8%
• Proteins 8%
• Blindness 7%
• Siblings 6%
• Amino Acids 5%
• Mothers 4%
• Polymerase Chain Reaction 4%