Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder

Background: Peroxisome biogenesis disorders (PBDs) may have a variable clinical expression, ranging from severe, lethal to mild phenotypes with progressive evolution. PBDs are autosomal recessive disorders caused by mutations in PEX genes, which encode proteins called peroxins, involved in the assem...

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Bibliografske podrobnosti
izdano v:JIMD Rep
Main Authors: Maxit, C., Denzler, I., Marchione, D., Agosta, G., Koster, J., Wanders, R. J. A., Ferdinandusse, S., Waterham, H. R.
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2016
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5509555/
https://ncbi.nlm.nih.gov/pubmed/27557811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_10
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