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Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

David J. Amor, Ashley P.L. Marsh, Elsdon Storey, Rick Tankard, Greta Gillies, Martin B. Delatycki, Kate Pope, Catherine Bromhead, Richard J. Leventer, Melanie Bahlo, Paul J. Lockhart

Neurol Genet. 2016 Dec; 2(6): e114. Published online 2016 Oct 18. doi: 10.1212/NXG.0000000000000114

PMCID:: PMC5070413

Abstract Article PDF–373K

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