Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
+1 credit
Thank you for your contribution! You can also upload a video entry or images related to this topic.
For video creation, please contact our Academic Video Service.
| Version | Summary | Created by | Modification | Content Size | Created at | Operation |
|---|---|---|---|---|---|---|
| 1 | Dean Liu | + 482 word(s) | 482 | 2020-12-15 07:56:51 |
Video Upload Options
We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Liu, D. HSD17B4 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4112 (accessed on 29 September 2026).
Liu D. HSD17B4 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4112. Accessed September 29, 2026.
Liu, Dean. "HSD17B4 Gene" Encyclopedia, https://encyclopedia.pub/entry/4112 (accessed September 29, 2026).
Liu, D. (2020, December 23). HSD17B4 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4112
Liu, Dean. "HSD17B4 Gene." Encyclopedia. Web. 23 December, 2020.
Copy Citation
Hydroxysteroid 17-beta dehydrogenase 4
genes
References
- Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ,Boltshauser E, Macaya A, Gärtner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT.Clinical and biochemical spectrum of D-bifunctional protein deficiency. AnnNeurol. 2006 Jan;59(1):92-104.
- Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR,Hiltunen JK, Wanders RJ, Glumoff T. Mutational spectrum of D-bifunctional proteindeficiency and structure-based genotype-phenotype analysis. Am J Hum Genet. 2006 Jan;78(1):112-24.
- McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE,Mackenzie A, Beaulieu CL, Mooyer PA; FORGE Canada Consortium, Wanders RJ,Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM. Specificcombination of compound heterozygous mutations in 17β-hydroxysteroiddehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional proteindeficiency. Orphanet J Rare Dis. 2012 Nov 22;7:90. doi: 10.1186/1750-1172-7-90.
- Möller G, van Grunsven EG, Wanders RJ, Adamski J. Molecular basis ofD-bifunctional protein deficiency. Mol Cell Endocrinol. 2001 Jan22;171(1-2):61-70. Review.
- Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM,Levy-Lahad E, Klevit RE, King MC. Mutations in the DBP-deficiency protein HSD17B4cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J HumGenet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007.
More
Information
Subjects:
Genetics & Heredity
Contributor
MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register
:
View Times:
577
Entry Collection:
MedlinePlus
Revision:
1 time
(View History)
Update Date:
23 Dec 2020
Table of Contents
Notice
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
Yes
No
${ textCharacter }/${ maxCharacter }
Submit
Cancel
Back
Comments
${ item }
|
${ item.createdUser.fullName }
${ item.createdAt }
${ item.vote }
${ item.reply }
Delete
${ reply.createdUser.fullName }
${ reply.createdAt }
${ reply.vote }
Delete
There is no reply to this comment~
${ item.replyTextCharacter }/${ item.replyMaxCharacter }
Submit
Cancel
More
No more~
There is no comment~
${ textCharacter }/${ maxCharacter }
Submit
Cancel
${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
Submit
Cancel
Confirm
Are you sure to Delete?
Yes
No