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Assessment of the Phenylketonuria (PKU)-Associated Mutation p.R155H Biochemical Manifestations by Mass Spectrometry-Based Blood Metabolite Profiling
Baturina O.A., Chernonosov A.A., Koval V.V., Morozov I.V.
Haplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of Russia
Dzhemileva L.U., Posukh O.L., Barashkov N.A., Fedorova S.A., Teryutin F.M., Akhmetova V.L., Khidiyatova I.M., Khusainova R.I., Lobov S.L., Khusnutdinova E.K.
Mutations in the Parkinson’s Disease-Associated PARK2 Gene Are Accompanied by Imbalance in Programmed Cell Death Systems
Konovalova E.V., Lopacheva O.M., Grivennikov I.A., Lebedeva O.S., Dashinimaev E.В., Khaspekov L.G., Fedotova E.Y., Illarioshkin S.N.
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