Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations.
LCAT
LCAT deficiency
VLDL
alpha-LCAT deficiency
cholesterol/trafficking
eye
fish eye disease
genomics
lecithin cholesterol acyltransferase deficiency
Journal
The application of clinical genetics
ISSN: 1178-704X
Titre abrégé: Appl Clin Genet
Pays: New Zealand
ID NLM: 101579789
Informations de publication
Date de publication:
2024
2024
Historique:
received:
01
09
2023
accepted:
16
12
2023
medline:
26
2
2024
pubmed:
26
2
2024
entrez:
26
2
2024
Statut:
epublish
Résumé
Mutations in the lecithin-cholesterol acyltransferase (
Identifiants
pubmed: 38404612
doi: 10.2147/TACG.S438135
pii: 438135
pmc: PMC10893891
doi:
Types de publication
Case Reports
Langues
eng
Pagination
23-32Informations de copyright
© 2024 Ciro Acosta et al.
Déclaration de conflit d'intérêts
The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.