A mutation creating an upstream translation initiation...

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Human Mutation 2019 / 06

A mutation creating an upstream translation initiation codon in SLC22A5 5’UTR is a frequent cause of primary carnitine deficiency

Ferdinandusse, Sacha, te Brinke, Heleen, Ruiter, Jos P.N., Haasjes, Janet, Oostheim, Wendy, Lenthe, Henk, IJlst, Lodewijk, Ebberink, Merel S., Wanders, Ronald J.A., Vaz, Frédéric M., Waterham, Hans R.
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Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23839
Date:
June, 2019
File:
PDF, 396 KB
english, 2019
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