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
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
Schriftenreihe:Вiopolymers and Cell
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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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