1 | PBD11, 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 | |
2 | PBD11 |
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 | |
3 | PBD11 |
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 | |