Spectrum of mutations in patients with organic acidurias from Ukraine
Aim. To identify mutations in patients from Ukraine with glutaric aciduria I, isolated methylmalonic aciduria, and isovaleric aciduria. Methods. Sanger sequencing. Results. We have identified 37.5 % of alleles (3/8) in patients with methylmalonic aciduria, 100 % of alleles (4/4) in patients with iso...
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Datum: | 2018 |
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Hauptverfasser: | Barvinska, O.I., Olkhovych, N.V., Shkurko, T.O., Gorovenko, N.G. |
Format: | Artikel |
Sprache: | English |
Veröffentlicht: |
Інститут молекулярної біології і генетики НАН України
2018
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Schriftenreihe: | Вiopolymers and Cell |
Schlagworte: | |
Online Zugang: | http://dspace.nbuv.gov.ua/handle/123456789/154281 |
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Назва журналу: | Digital Library of Periodicals of National Academy of Sciences of Ukraine |
Zitieren: | Spectrum of mutations in patients with organic acidurias from Ukraine / O.I. Barvinska, N.V. Olkhovych, T.O. Shkurko, N.G. Gorovenko // Вiopolymers and Cell. — 2018. — Т. 34, № 2. — С. 107-116. — Бібліогр.: 19 назв. — англ. |
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