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...

Full description

Saved in:
Bibliographic Details
Date:2018
Main Authors: Barvinska, O.I., Olkhovych, N.V., Shkurko, T.O., Gorovenko, N.G.
Format: Article
Language:English
Published: Інститут молекулярної біології і генетики НАН України 2018
Series:Вiopolymers and Cell
Subjects:
Online Access:http://dspace.nbuv.gov.ua/handle/123456789/154281
Tags: Add Tag
No Tags, Be the first to tag this record!
Journal Title:Digital Library of Periodicals of National Academy of Sciences of Ukraine
Cite this: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.

Institution

Digital Library of Periodicals of National Academy of Sciences of Ukraine