| 1 | PBD6,PEX12
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| A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
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| Zeharia A, Ebberink MS, Wanders RJ, Waterham HR, Gutman A, Nissenkorn A, Korman SH.
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| J Hum Genet 52(7):599-606. Epub 2007 May 30. 2007
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| 2 | PBD1, PBD3, PBD5, PBD6, PBD8, PBD9
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| Peroxisomal disorders: The single peroxisomal enzyme deficiencies.
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| Wanders RJ, Waterham HR.
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| Biochim Biophys Acta [Epub ahead of print] 2006
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| 3 | PBD1, PBD2, PBD3, PBD4, PBD5, PBD6, PBD7, PBD8, PBD9, PBD10
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| Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.
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| Wanders RJ, Waterham HR.
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| Clin Genet 67(2):107-33. Review. 2005
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| 4 | PEX12, PBD6
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| Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
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| Gootjes J, Schmohl F, Waterham HR, Wanders RJ.
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| Eur J Hum Genet 12(2):115-20. 2004
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| 5 | PBD1, PBD2, PBD3, PBD4, PBD5, PBD6, PBD8, PBD9, PBD10
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| Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
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| Poll-The BT, Gootjes J, Duran M, De Klerk JB, Wenniger-Prick LJ, Admiraal RJ, Waterham HR, Wanders RJ, Barth PG.
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| Am J Med Genet A 126(4):333-8. 2004
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| 6 | PBD6, PEX12
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| PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.
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| Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y.
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| Mol Cell Biol 18(7):4324-36. 1998
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| 7 | PBD6, PEX12
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| Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.
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| Chang CC, Lee WH, Moser H, Valle D, Gould SJ.
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| Nat Genet 15(4):385-8. 1997
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