Associated Papers
Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review.
Su L et al.
Molecular Genetics & Genomic Medicine, 2024
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P et al.
Orphanet Journal of Rare Diseases, 2022
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.
Shimozawa N et al.
Human Molecular Genetics, 1999
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