Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants

Familial hypercholesterolemia (FH) is an autosomal-dominant disorder caused mainly by substitutions in the low-density lipoprotein receptor (LDLR) gene, leading to an increased risk of premature cardiovascular diseases. Tremendous advances in sequencing techniques have resulted in the discovery of m...

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Detalles Bibliográficos
Autores principales: Jasiecki, Jacek, Targońska, Monika, Janaszak-Jasiecka, Anna, Chmara, Magdalena, Żuk, Monika, Kalinowski, Leszek, Waleron, Krzysztof, Wasąg, Bartosz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379666/
https://www.ncbi.nlm.nih.gov/pubmed/37511194
http://dx.doi.org/10.3390/ijms241411435

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379666/
https://www.ncbi.nlm.nih.gov/pubmed/37511194
http://dx.doi.org/10.3390/ijms241411435

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