Citations for
1PBD11, PEX19
A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.
Mohamed S, El-Meleagy E, Nasr A, Ebberink MS, Wanders RJ, Waterham HR.
Am J Med Genet A 152A(9):2318-21. 2010
2PBD11
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.
Moser AB, Rasmussen M, Naidu S, Watkins PA, McGuinness M, Hajra AK, Chen G, Raymond G, Liu A, Gordon D, et al.
J Pediatr 127(1):13-22. 1995
3PBD11
Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders.
Wanders RJ, van Roermund CW, van Wijland MJ, Schutgens RB, Heikoop J, van den Bosch H, Schram AW, Tager JM.
J Clin Invest 80(6):1778-83. 1987