Associated Papers
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.
Bernal-Bonilla IT et al.
The Application of Clinical Genetics, 2025
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 2016
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.
Ebberink MS et al.
Human Mutation, 2009
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