Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
American Journal Of Human Genetics
Ferdinandusse, Sacha S; Ylianttila, Mari S MS; Gloerich, Jolein J; Koski, M Kristian MK; Oostheim, Wendy W; Waterham, Hans R HR; Hiltunen, J Kalervo JK; Wanders, Ronald J A RJ; Glumoff, Tuomo T