Associated Papers
A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.
Konkoľová J et al.
Molecular Biology Reports, 2015
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
Dranchak PK et al.
Journal of Cellular Biochemistry, 2011
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 mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
Gootjes J et al.
European Journal of Human Genetics : Ejhg, 2004
Select a paper to view details