Citations for
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.
Zeharia A, Ebberink MS, Wanders RJ, Waterham HR, Gutman A, Nissenkorn A, Korman SH.
J Hum Genet 52(7):599-606. Epub 2007 May 30. 2007
Peroxisomal disorders: The single peroxisomal enzyme deficiencies.
Wanders RJ, Waterham HR.
Biochim Biophys Acta [Epub ahead of print] 2006
3PBD1, PBD2, PBD3, PBD4, PBD5, PBD6, PBD7, PBD8, PBD9, PBD10
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.
Wanders RJ, Waterham HR.
Clin Genet 67(2):107-33. Review. 2005
4PEX12, PBD6
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
Gootjes J, Schmohl F, Waterham HR, Wanders RJ.
Eur J Hum Genet 12(2):115-20. 2004
5PBD1, PBD2, PBD3, PBD4, PBD5, PBD6, PBD8, PBD9, PBD10
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
Poll-The BT, Gootjes J, Duran M, De Klerk JB, Wenniger-Prick LJ, Admiraal RJ, Waterham HR, Wanders RJ, Barth PG.
Am J Med Genet A 126(4):333-8. 2004
6PBD6, PEX12
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.
Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y.
Mol Cell Biol 18(7):4324-36. 1998
7PBD6, PEX12
Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.
Chang CC, Lee WH, Moser H, Valle D, Gould SJ.
Nat Genet 15(4):385-8. 1997