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Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics
Schackmann, Martin J.A., Ofman, Rob, van Geel, Björn M., Dijkstra, Inge M.E., van Engelen, Klaartje, Wanders, Ronald J.A., Engelen, Marc, Kemp, StephanLanguage:
english
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2016.03.009
Date:
April, 2016
File:
PDF, 443 KB
english, 2016