Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel

The most common form of inherited lipid disorders is familial hypercholesterolemia (FH). It is characterized primarily by high concentrations of the clinical triad of low-density lipoprotein cholesterol, tendon xanthomas and premature CVD. The well-known genetic background are mutations in LDLR, APO...

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Detalles Bibliográficos
Autores principales: Rutkowska, Lena, Sałacińska, Kinga, Salachna, Dominik, Matusik, Paweł, Pinkier, Iwona, Kępczyński, Łukasz, Piotrowicz, Małgorzata, Starostecka, Ewa, Lewiński, Andrzej, Gach, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223034/
https://www.ncbi.nlm.nih.gov/pubmed/35741760
http://dx.doi.org/10.3390/genes13060999

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223034/
https://www.ncbi.nlm.nih.gov/pubmed/35741760
http://dx.doi.org/10.3390/genes13060999

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