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

Pubmed ID: 
27790638
Year: 
2016
Month: 
Dec
Volume: 
2
Issue: 
6
Citation: 
Amor DJ, Marsh AP, Storey E, Tankard R, Gillies G, Delatycki MB, Pope K, Bromhead C, Leventer RJ, Bahlo M, Lockhart PJ. Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency. Neurology. Genetics 2 (6) : e114(2016) PubMed