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

标题
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
作者
关键词
Riboflavin, MADD, Splicing silencer, hnRNP A1
出版物
MOLECULAR GENETICS AND METABOLISM
Volume 122, Issue 4, Pages 182-188
出版商
Elsevier BV
发表日期
2017-11-03
DOI
10.1016/j.ymgme.2017.10.014

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