Zellweger syndrome caused by PEX13 deficiency: Report of two novel mutations
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32874/fullpdf
Reference16 articles.
1. Molecular Biology of the Cell
2. Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders;Al-Dirbashi;J Lipid Res,2008
3. Involvement of Pex13p in Pex14p localization and peroxisomal targeting signal 2-dependent protein import into peroxisomes;Girzalsky;J Cell Biol,1999
4. Peroxisome biogenesis disorders: Genetics and cell biology;Gould;Trends Genet,2000
5. Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTs1 receptor;Gould;J Cell Biol,1992
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1. Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review;Molecular Genetics & Genomic Medicine;2023-11-14
2. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders;Orphanet Journal of Rare Diseases;2022-07-19
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