Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
| Main Authors: | , , , , , , , , , , |
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| Format: | Online |
| Language: | English |
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Wolters Kluwer
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070413/ |
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pubmed-5070413 |
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oai_dc |
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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/ |
| _version_ |
1613689702159745024 |