Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis

Genetics of Familial Hypercholesterolemia (FH) is ascribable to pathogenic variants in genes encoding proteins leading to an impaired LDL uptake by the LDL receptor (LDLR). Two forms of the disease are possible, heterozygous (HeFH) and homozygous (HoFH), caused by one or two pathogenic variants, res...

Descripción completa

Detalles Bibliográficos
Autores principales: Di Taranto, Maria Donata, Fortunato, Giuliana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9961636/
https://www.ncbi.nlm.nih.gov/pubmed/36834635
http://dx.doi.org/10.3390/ijms24043224

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9961636/
https://www.ncbi.nlm.nih.gov/pubmed/36834635
http://dx.doi.org/10.3390/ijms24043224

Ejemplares similares