Search academic texts

Information × Registration Number 0205U002257, 0103U005717 , R & D reports Title The investigation of the spreaded in Ukraine monogenic neuro-muscular and psychic diseases on the molecular-genetical level popup.stage_title Head Barylyak I.R., Registration Date 09-02-2005 Organization Research Centre for Radiation Medicine popup.description2 Objekt: patients with the spreaded in Ukraine neuromuscular and psychic diseases, members of their families and biological material received of them. Aim: to carry out the DNA-analysis of pati- ents with Charcot-Marie-Tooth neuropathy, spinal muscular atrofy, Dushenne muscular dystrofy, phenylketonuria, Martin-Bell syndrome. Methods: the clinical-genealogical analysis,neurological investigation,electro-physiological investigation,polymerazae chain reaction. Results: the DNA- bank of patients with diseases indicated higher and members of their families was created. The frequency and spectrum of mutations of ukrainian population were determined. The correlations between the kind of mutation and the type of disease were established. The conception of the formation of phenotype of hereditary diseases was proposed. Product Description popup.authors popup.nrat_date 2020-04-02 Close