Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency:
C2/C0
bacterial expression system
disease-causing mutation
functional analysis
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase
Journal
Experimental and therapeutic medicine
ISSN: 1792-0981
Titre abrégé: Exp Ther Med
Pays: Greece
ID NLM: 101531947
Informations de publication
Date de publication:
Nov 2020
Nov 2020
Historique:
received:
11
12
2019
accepted:
17
06
2020
entrez:
21
9
2020
pubmed:
22
9
2020
medline:
22
9
2020
Statut:
ppublish
Résumé
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS2) deficiency is a metabolic disorder caused by mutations in the
Identifiants
pubmed: 32952630
doi: 10.3892/etm.2020.9166
pii: ETM-0-0-09166
pmc: PMC7480138
doi:
Banques de données
figshare
['10.6084/m9.figshare.10308536.v1']
Types de publication
Journal Article
Langues
eng
Pagination
39Informations de copyright
Copyright: © Ago et al.
Références
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