[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 promoter region and 15 exons of dystrophin gene; R408W and IVS10nt546 mutations in PAH gene; GGG-expansions in FMR1 gene are...

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