Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis

Sacha Ferdinandusse, Mari S. Ylianttila, Jolein Gloerich, M. Kristian Koski, W. Oostheim, Hans R. Waterham, J. Kalervo Hiltunen, Ronald J. A. Wanders, Tuomo Glumoff

The American Journal of Human Genetics · 2005 · 97 citations · 34 references

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