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Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
Hum Mutat. 2004 Mar;23(3):209-18. doi: 10.1002/humu.10315.
Hum Mutat. 2004.
PMID: 14974078
Review.
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
Jansen GA, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ.
Jansen GA, et al.
Hum Mol Genet. 2000 May 1;9(8):1195-200. doi: 10.1093/hmg/9.8.1195.
Hum Mol Genet. 2000.
PMID: 10767344
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