[The molecular genetic nature of the mutations responsible for the development in Ukraine of more widely spread forms of neuromuscular pathology and mental retardation with a monogenic nature of the heredity].

Abstract excerpt

DNA-analysis of some mutation of SMN, dystrophin, FMR1 and PAH genes was performed among 149 high risk families of SMA, DMD, fragile X syndrome and PKU from different regions of Ukraine. The results of analysis of: deletions in the 7th and 8th exons of SMN gene; deletions in muscle-specific promo...

Topics

• DNA
• Exons
• Gene Deletion
• Gene Frequency
• Genes
• Humans
• Intellectual Disability
• Mutation
• Neuromuscular Diseases
• Polymerase Chain Reaction
• Risk Factors
• Ukraine