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Information × Registration Number 0304U001617, 0103U005717 , R & D reports Title The investigation of the spreaded in Ukraine neuromuscular and psychic monogenic diseases on the molecular-genetical level popup.stage_title Проведення ДНК-аналізу хворим на спінальну м'язову атрофію, м'язову дистрофію Дюшенна, хворобу Шарко-Марі, фенілкетонурію, синдром Мартіна-Белла та членам їх родин Head Barylyak I.R., Registration Date 10-03-2004 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 patients with Charcot-Marie-Tooh neuropathy, spinal muscular atrofy, Dushenne muscular dystrofy, phenylketonuria, Martin-Bell syndrome. Methods: the clinical-genealogical analysis, neurological, electrophysiological investigation, polymerazae chain reaction. Results: the DNA-analysis of patients with diseases indicated higher and members of their families was conducted. The more spreaded in our population mutations are determined. The correlations between the kind of mutation and the type of disease are established. Product Description popup.authors popup.nrat_date 2020-04-02 Close