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

por Ferdinandusse, Sacha, te Brinke, Heleen, Ruiter, Jos P.N., Haasjes, Janet, Oostheim, Wendy, van Lenthe, Henk, IJlst, Lodewijk, Ebberink, Merel S., Wanders, Ronald J.A., Vaz, Frédéric M., Waterham, Hans R.
Publicado 2019

Genetic basis of hyperlysinemia

por Houten, Sander M, te Brinke, Heleen, Denis, Simone, Ruiter, Jos PN, Knegt, Alida C, de Klerk, Johannis BC, Augoustides-Savvopoulou, Persephone, Häberle, Johannes, Baumgartner, Matthias R, Coşkun, Turgay, Zschocke, Johannes, Sass, Jörn Oliver, Poll-The, Bwee Tien, Wanders, Ronald JA, Duran, Marinus
Publicado 2013