Associated Papers
Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ et al.
Orphanet Journal of Rare Diseases, 2019
31831025 (PubMed )
Supplement: 13023_2019_1243_MOESM5_ESM.pdf
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
Genotype-phenotype correlations in disorders of peroxisome biogenesis.
Moser HW
Molecular Genetics and Metabolism, 1999
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.
Zhang Z et al.
Human Mutation, 1999
Peroxisomal disorders. Molecular defects, genotype-phenotype correlations and therapy.
Moser HW
Le Journal Medical Libanais. the Lebanese Medical Journal, 0
Select a paper to view details