A Rare Mutation in
LMNB2
hypertriglyceridemia
lamin B2
lipodystrophy
nuclear envelope
senescence
type 2 diabetes
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
24 12 2021
24 12 2021
Historique:
received:
04
11
2021
revised:
16
12
2021
accepted:
22
12
2021
entrez:
11
1
2022
pubmed:
12
1
2022
medline:
26
2
2022
Statut:
epublish
Résumé
Many proteins are causative for inherited partial lipodystrophies, including lamins, the essential constituents of the nuclear envelope scaffold called the lamina. By performing high throughput sequencing on a panel of genes involved in lipodystrophies, we identified a heterozygous mutation in
Identifiants
pubmed: 35011612
pii: cells11010050
doi: 10.3390/cells11010050
pmc: PMC8750194
pii:
doi:
Substances chimiques
Lamin Type B
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Références
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