Authors:
Ferdinandusse, Sacha
Ylianttila, Mari S.
Gloerich, Jolein
Koski, M. Kristian
Oostheim, Wendy
Waterham, Hans R.
Hiltunen, J. Kalervo
Wanders, Ronald J.A.
Glumoff, Tuomo
Citation: Ferdinandusse, Sacha et al., Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis, American journal of human genetics , 78(1), 2006, pp. 112-124