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

Bibliographic Details
Main Authors: 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.
Format: Online
Language:English
Published: Wolters Kluwer 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070413/
id pubmed-5070413
recordtype oai_dc
spelling pubmed-50704132016-10-27 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. Article Wolters Kluwer 2016-10-18 /pmc/articles/PMC5070413/ /pubmed/27790638 http://dx.doi.org/10.1212/NXG.0000000000000114 Text en © 2016 American Academy of Neurology This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author 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.
spellingShingle 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.
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
author_facet 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.
author_sort Amor, David J.
title Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
title_short Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
title_full Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
title_fullStr Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
title_full_unstemmed Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
title_sort heterozygous mutations in hsd17b4 cause juvenile peroxisomal d-bifunctional protein deficiency
description
publisher Wolters Kluwer
publishDate 2016
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070413/
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