β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity
by Dobritzsch, Doreen (Author)
, Meijer, Judith (Author)
, Meinsma, Rutger (Author)
, Maurer, Dirk (Author)
, Monavari, Ardeshir A. (Author)
, Gummesson, Anders (Author)
, Reims, Annika (Author)
, Cayuela, Jorge A. (Author)
, Kuklina, Natalia (Author)
, Benoist, Jean-François (Author)
, Perrin, Laurence (Author)
, Assmann, Birgit (Author)
, Hoffmann, Georg F. (Author)
, Bierau, Jörgen (Author)
, Kaindl, Angela M. (Author)
, van Kuilenburg, André B. P. (Author)
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