Heterozygous mutations in HISD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
David J Amor, Ashley P Marsh, Elsdon Storey, Rick Tankard, Greta Gillies, Martin B Delatycki, Kate Pope, Catherine Bromhead, Richard J Leventer, Melanie Bahlo, Paul J Lockhart
NEUROLOGY-GENETICS | LIPPINCOTT WILLIAMS & WILKINS | Published : 2016
Awarded by National Health and Medical Research Council Australia Program
Awarded by ARC Future Fellowship
Awarded by NHMRC Career Development Fellowship
This work was funded in part by National Health and Medical Research Council Australia Program Grant 490037 to D.J.A. and M.B. A.P.L.M. and R.T. are supported by APA scholarships funded by the Australian Government. M.B. is supported by an ARC Future Fellowship (FT100100764), and P.J.L. is supported by an NHMRC Career Development Fellowship (APP1032364). R.J.L. is supported by a Melbourne Children's Clinician-Scientist Fellowship. This work was made possible through the Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS.