| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | RDPA
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| Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans.
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| Jansen GA, Mihalik SJ, Watkins PA, Moser HW, Jakobs C, Denis S, Wanders RJ.
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| J Inherit Metab Dis 229(1):205-10. 1996
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| 7 | RDPA
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| Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family.
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| Nadal N, Rolland MO, Tranchant C, Reutenauer L, Gyapay G, Warter JM, Mandel JL, Koenig M.
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| Hum Mol Genet 4(10):1963-6. 1995
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