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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

Livshits L.A.

 




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 presented.

Tsitologiya i Genetika 1998, vol. 32, no. 1, pp. 3-8



Livshits L.A. 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, Tsitol Genet., 1998, vol. 32, no. 1, pp. 3-8.




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