A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia

BACKGROUND: FH, a hereditary disorder, is caused by pathogenic variants in the LDLR, APOB, and PCSK9 genes. This study has assessed genetic variants in a family, clinically diagnosed with FH. METHODS: A family was recruited from MASHAD study in Iran with possible FH based on the Simon Broom criteria...

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Detalles Bibliográficos
Autores principales: Ahangari, Najmeh, Sahebkar, Amirhossein, Azimi-Nezhad, Mohsen, Ghazizadeh, Hamideh, Moohebati, Mohsen, Ebrahimi, Mahmoud, Esmaeili, Habibollah, Ferns, Gordon A., Pasdar, Alireza, Ghayour Mobarhan, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pasteur Institute of Iran 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8487678/
https://www.ncbi.nlm.nih.gov/pubmed/34425670
http://dx.doi.org/10.52547/ibj.25.5.374

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8487678/
https://www.ncbi.nlm.nih.gov/pubmed/34425670
http://dx.doi.org/10.52547/ibj.25.5.374

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