Associated Papers
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Tucker EJ et al.
Human Genetics, 2020
Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.
Schieferdecker A et al.
International Journal of Molecular Sciences, 2019
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
Ebberink MS et al.
Human Mutation, 2010
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Suzuki Y et al.
Journal of Inherited Metabolic Disease, 2001
Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.
Imamura A et al.
Pediatric Research, 2000
[Clinical and molecular aspects of peroxisome-deficient disorders].
Suzuki Y et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1993
[Clinical biochemical and genetic aspects of peroxisome-deficient disorders].
Suzuki Y
No to Hattatsu = Brain and Development, 1992
Genetic and molecular bases of peroxisome biogenesis disorders.
Suzuki Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Select a paper to view details