Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.
CYP7A1
LDL uptake
LDLRAP1
LRP6
autosomal dominant hypercholesterolemia
linkage analysis
next-generation sequencing
oligogenic hypercholesterolemia
polygenic risk score
protein structural models
Journal
Metabolites
ISSN: 2218-1989
Titre abrégé: Metabolites
Pays: Switzerland
ID NLM: 101578790
Informations de publication
Date de publication:
18 Mar 2022
18 Mar 2022
Historique:
received:
21
01
2022
revised:
10
03
2022
accepted:
16
03
2022
entrez:
24
3
2022
pubmed:
25
3
2022
medline:
25
3
2022
Statut:
epublish
Résumé
Autosomal Dominant Hypercholesterolemia (ADH) is a genetic disorder caused by pathogenic variants in
Identifiants
pubmed: 35323704
pii: metabo12030262
doi: 10.3390/metabo12030262
pmc: PMC8955453
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL107816
Pays : United States
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