Hypertrophic cardiomyopathy mutations in
Adenosine Triphosphate
/ analogs & derivatives
Animals
Cardiomyopathy, Hypertrophic
/ genetics
Carrier Proteins
/ genetics
Disease Models, Animal
Haploinsufficiency
Humans
Mice
Mutation
/ genetics
Myocardial Contraction
Myocardium
/ metabolism
Myocytes, Cardiac
/ metabolism
Myosins
/ metabolism
Phenotype
ortho-Aminobenzoates
/ metabolism
Journal
Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086
Informations de publication
Date de publication:
23 01 2019
23 01 2019
Historique:
received:
25
01
2018
revised:
05
06
2018
accepted:
30
11
2018
entrez:
25
1
2019
pubmed:
25
1
2019
medline:
23
2
2020
Statut:
ppublish
Résumé
The mechanisms by which truncating mutations in
Identifiants
pubmed: 30674652
pii: 11/476/eaat1199
doi: 10.1126/scitranslmed.aat1199
pmc: PMC7184965
mid: NIHMS1558392
pii:
doi:
Substances chimiques
Carrier Proteins
0
myosin-binding protein C
0
ortho-Aminobenzoates
0
3'-O-(N-methylanthraniloyl) ATP
85287-56-5
Adenosine Triphosphate
8L70Q75FXE
Myosins
EC 3.6.4.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : British Heart Foundation
ID : RG/12/16/29939
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 206466/Z/17/Z
Pays : United Kingdom
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NHLBI NIH HHS
ID : K02 HL114749
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL084553
Pays : United States
Organisme : British Heart Foundation
ID : RG/18/9/33887
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : R01 HL105826
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL130356
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2019 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.
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