New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia

Autosomal dominant hypercholesterolemia (ADH) is characterized by elevated LDL-C levels leading to coronary heart disease. Four genes are implicated in ADH: LDLR, APOB, PCSK9 and APOE. Our aim was to identify new mutations in known genes, or in new genes implicated in ADH. Thirteen French families w...

Descripción completa

Detalles Bibliográficos
Autores principales: Elbitar, Sandy, Susan-Resiga, Delia, Ghaleb, Youmna, El Khoury, Petra, Peloso, Gina, Stitziel, Nathan, Rabès, Jean-Pierre, Carreau, Valérie, Hamelin, Josée, Ben-Djoudi-Ouadda, Ali, Bruckert, Eric, Boileau, Catherine, Seidah, Nabil G., Varret, Mathilde, Abifadel, Marianne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792649/
https://www.ncbi.nlm.nih.gov/pubmed/29386597
http://dx.doi.org/10.1038/s41598-018-20281-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792649/
https://www.ncbi.nlm.nih.gov/pubmed/29386597
http://dx.doi.org/10.1038/s41598-018-20281-9

Ejemplares similares