Associated Papers
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Pitsava G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Pitsava G et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.
Wang XM et al.
Stem Cell Research & Therapy, 2015
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY et al.
Human Mutation, 2009
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.
Maxwell MA et al.
Human Mutation, 2002
A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.
Lee J et al.
Ear and Hearing, 0
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