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

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

Neurology. Genetics, 2016-12, Vol.2 (6), p.e114-e114 [Periódico revisado por pares]

United States: Wolters Kluwer

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