An intronic variation in SLC52A1 causes exon skipping and...

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An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Mosegaard, Signe, Bruun, Gitte Hoffmann, Flyvbjerg, Karen Freund, Bliksrud, Yngve Thomas, Gregersen, Niels, Dembic, Maja, Annexstad, Ellen, Tangeraas, Trine, Olsen, Rikke Katrine Jentoft, Andresen, Br
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Language:
english
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2017.10.014
Date:
November, 2017
File:
PDF, 399 KB
english, 2017
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