| 1 | PHYH
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| Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands.
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| Searls T, Butler D, Chien W, Mukherji M, Lloyd MD, Schofield CJ.
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| J Lipid Res 46(8):1660-7. Epub 2005 Jun 1. 2005
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| 2 | PEX7, PHYH
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| Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
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| Jansen GA, Waterham HR, Wanders RJ.
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| Hum Mutat 23(3):209-18. Review. 2004
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| 3 | PHYH, RDPA
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| Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.
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| Mukherji M, Chien W, Kershaw NJ, Clifton IJ, Schofield CJ, Wierzbicki AS, Lloyd MD.
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| Hum Mol Genet 10(18):1971-82. 2001
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| 4 | PHYH
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| Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
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| Jansen GA, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ.
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| Hum Mol Genet 9(8):1195-200. 2000
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| 5 | PHYH, PHYHIP, RDPA
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| Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase.
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| Lee ZH, Kim H, Ahn KY, Seo KH, Kim JK, Bae CS, Kim KK.
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| Brain Res Mol Brain Res 75(2):237-47. 2000
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| 6 | FKBP4, PHYH
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| Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated protein.
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| Chambraud B, Radanyi C, Camonis JH, Rajkowski K, Schumacher M, Baulieu EE.
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| Proc Natl Acad Sci U S A 96(5):2104-9. 1999
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| 7 | PHYH, RDPA
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| Molecular basis of Refsum disease : identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.
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| Jansen GA, Ferdinandusse S, Skjeldal OH, Stokke O, de Groot CJ, Jakobs C, Wanders RJ.
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| J Inherit Metab Dis 21 : 288-291. 1998
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| 8 | PHYH, RDPA
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| Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.
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| Jansen GA, Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, Skjeldal OH, Stokke O, Jakobs C, Besley GT, Wraith JE, Wanders RJ.
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| Nat Genet 17(2):190-3. 1997
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| 9 | PHYH, RDPA
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| Identification of PAHX, a Refsum disease gene.
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| Mihalik SJ, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ.
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| Nat Genet 17(2):185-9. 1997
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