Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients

Maxwell, Megan A.Allen, TamaraSolly, Pamela B.Svingen, TerjePaton, Barbara ClelandCrane, Denis I.2006-06-232006-06-232002Human Mutation, 2002; 20(5):342-3511059-7794http://hdl.handle.net/2440/7359en© 2002 Wiley-Liss, Inc.peroxisome biogenesis disorder, PBD; Zellweger syndrome, ZS; infantile Refsum disease, IRD; neonatal adrenoleukodystrophy, NALD; PEX1; mutation detectionNovel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patientsJournal article002002124410.1002/humu.101280001790592000032-s2.0-0036414691