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


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


The American Journal of Human Genetics




January 2006

Copyright © 2006, Elsevier

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