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Heterozygous mutations in HISD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

RepositoryUniversity of Melbourne [Minerva Access]
URLhttp://hdl.handle.net/11343/219699
Author(s)orcid:0000-0001-7191-8511; orcid:0000-0001-6049-6931; orcid:0000-0002-8847-9401; orcid:0000-0001-5132-0774; orcid:0000-0003-2531-8413; Amor, DJ; Marsh, AP; Storey, E; Tankard, R; Gillies, G; Delatycki, MB; Pope, K; Bromhead, C; Leventer, RJ; Bahlo, M; Loc
Item typeArticle
JournalNeurology Genetics, Print_ISSN:2376-7839, Online_ISSN:2376-7839
DOIhttps://doi.org/10.1212/NXG.0000000000000114

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